ClinVar Miner

Submissions for variant NM_004999.4(MYO6):c.2982G>A (p.Glu994=)

gnomAD frequency: 0.00487  dbSNP: rs55905349
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Total submissions: 10
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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 RCV000038300 SCV000061969 benign not specified 2012-03-16 criteria provided, single submitter clinical testing Glu994Glu in exon 28 of MYO6: 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, has been identified in 0.8% (57/7020) of European American chromosomes and 0.16% (6/3738) of African American chromosomes in a br oad population by the NHLBI Exome sequencing project (http://evs.gs.washington.e du/EVS/ ; dbSNP rs55905349) and is reported as benign in one publication (Ahituv 2000).
PreventionGenetics, part of Exact Sciences RCV000038300 SCV000310771 benign not specified criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000038300 SCV000704502 benign not specified 2016-12-29 criteria provided, single submitter clinical testing
GeneDx RCV000873795 SCV000730209 benign not provided 2019-07-25 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 11167014)
Invitae RCV000873795 SCV001015855 benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000873795 SCV001144695 benign not provided 2019-07-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001164576 SCV001326709 uncertain significance Autosomal recessive nonsyndromic hearing loss 37 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 RCV001164577 SCV001326710 benign Autosomal dominant nonsyndromic hearing loss 22 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
CeGaT Center for Human Genetics Tuebingen RCV000873795 SCV001747472 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MYO6: BP4, BP7, BS2
Ambry Genetics RCV003242970 SCV003950334 likely benign Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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