ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2446C>T (p.Arg816Cys)

gnomAD frequency: 0.00001  dbSNP: rs781926175
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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 RCV001052455 SCV001216665 uncertain significance not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 816 of the MYO7A protein (p.Arg816Cys). This variant is present in population databases (rs781926175, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with MYO7A-related conditions. ClinVar contains an entry for this variant (Variation ID: 848652). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt MYO7A protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Genome-Nilou Lab RCV001578719 SCV001806011 uncertain significance Autosomal dominant nonsyndromic hearing loss 11 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578720 SCV001806012 uncertain significance Autosomal recessive nonsyndromic hearing loss 2 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001578721 SCV001806013 uncertain significance Usher syndrome type 1 2021-07-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV001272503 SCV001454575 uncertain significance Usher syndrome type 1B 2020-09-16 no assertion criteria provided clinical testing

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