ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.510G>A (p.Leu170=)

gnomAD frequency: 0.00138  dbSNP: rs34477144
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000036177 SCV000059829 benign not specified 2013-10-17 criteria provided, single submitter clinical testing Leu170Leu in exon 6 of MYO7A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, is not located within the splice consensus sequence and has been identified in 0.3% (23/8444) of Europ ean American chromosomes in a broad population by the NHLBI Exome sequencing pro ject (http://evs.gs.washington.edu/EVS/; dbSNP rs34477144) and was reported in 2 /664 (0.3%) of control chromosomes (Roux 2006).
Eurofins Ntd Llc (ga) RCV000036177 SCV000340588 likely benign not specified 2016-03-24 criteria provided, single submitter clinical testing
GeneDx RCV000839307 SCV000981202 likely benign not provided 2018-03-23 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV000839307 SCV001110746 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001111775 SCV001269363 likely benign Autosomal dominant nonsyndromic hearing loss 11 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina RCV001111776 SCV001269364 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Illumina Laboratory Services, Illumina RCV001111777 SCV001269365 uncertain significance Usher syndrome type 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genome-Nilou Lab RCV001111777 SCV001652756 likely benign Usher syndrome type 1 2021-05-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000839307 SCV004131110 likely benign not provided 2023-03-01 criteria provided, single submitter clinical testing MYO7A: BP4, BP7, BS2
Clinical Genetics, Academic Medical Center RCV000036177 SCV001918029 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000839307 SCV001973027 likely benign not provided no assertion criteria provided clinical testing
Natera, Inc. RCV001831639 SCV002093121 benign Usher syndrome type 1B 2019-12-06 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004541089 SCV004795131 benign MYO7A-related disorder 2019-11-11 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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