ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5029C>T (p.Pro1677Ser)

gnomAD frequency: 0.00001  dbSNP: rs535102352
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001034173 SCV001197503 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV001034173 SCV001772111 uncertain significance not provided 2022-03-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003117713 SCV003800696 uncertain significance not specified 2023-01-20 criteria provided, single submitter clinical testing Variant summary: MYO7A c.5029C>T (p.Pro1677Ser) results in a non-conservative amino acid change in the encoded protein sequence. Four of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 0.00022 in 248230 control chromosomes (gnomAD). To our knowledge, no occurrence of c.5029C>T in individuals affected with MYO7A-Related Disorders and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite this variant as uncertain significance (n=2) and likely benign (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.
Natera, Inc. RCV001272802 SCV001455168 uncertain significance Usher syndrome type 1B 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004536057 SCV004715718 likely benign MYO7A-related disorder 2023-09-13 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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