ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.448C>A (p.Arg150=)

gnomAD frequency: 0.00031  dbSNP: rs121965079
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Total submissions: 12
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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 RCV000155223 SCV000204909 likely benign not specified 2014-08-07 criteria provided, single submitter clinical testing Arg150Arg in exon 5 of MYO7A: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 7/8372 of European A merican chromosomes and 1/4076 of African American chromosomes by the NHLBI Exom e Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs121965079).
PreventionGenetics, part of Exact Sciences RCV000155223 SCV000303296 likely benign not specified criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000487904 SCV000574900 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing MYO7A: BP4, BS2
GeneDx RCV000487904 SCV000984196 likely benign not provided 2018-04-26 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 RCV000487904 SCV001104083 benign not provided 2024-01-21 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001109454 SCV001266795 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001115097 SCV001273042 uncertain significance Usher syndrome type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001115098 SCV001273043 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Genome-Nilou Lab RCV001115098 SCV002015933 benign Autosomal dominant nonsyndromic hearing loss 11 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001109454 SCV002015934 likely benign Autosomal recessive nonsyndromic hearing loss 2 2021-09-05 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001115097 SCV002015935 likely benign Usher syndrome type 1 2021-09-05 criteria provided, single submitter clinical testing
Natera, Inc. RCV001274688 SCV001459055 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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