ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.548C>T (p.Ser183Leu)

gnomAD frequency: 0.00004  dbSNP: rs781893704
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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 RCV001067781 SCV001232861 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV001195388 SCV001365737 uncertain significance not specified 2019-08-27 criteria provided, single submitter clinical testing The p.Ser183Leu variant in MYO7A has not been previously reported in individuals with Usher syndrome, but has been identified in 0.1% (49/35372) of Latino chromosomes by gnomAD (http://gnomad.broadinstitute.org). Computational prediction tools and conservation analysis suggest that this variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PP3, BS1_Supporting.
GeneDx RCV001067781 SCV001871190 uncertain significance not provided 2024-09-16 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 34515852)
PreventionGenetics, part of Exact Sciences RCV004536131 SCV004114789 uncertain significance MYO7A-related disorder 2022-11-02 criteria provided, single submitter clinical testing The MYO7A c.548C>T variant is predicted to result in the amino acid substitution p.Ser183Leu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.14% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-76867783-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001275893 SCV001461543 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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