ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1895T>G (p.Phe632Cys)

gnomAD frequency: 0.00008  dbSNP: rs782785036
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001069292 SCV001234449 uncertain significance not provided 2022-10-02 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with cysteine, which is neutral and slightly polar, at codon 632 of the MYO7A protein (p.Phe632Cys). This variant is present in population databases (rs782785036, 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: 862550). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MYO7A protein function. 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.
GeneDx RCV001069292 SCV002547238 uncertain significance not provided 2022-01-06 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001828515 SCV002086589 uncertain significance Usher syndrome type 1B 2020-02-21 no assertion criteria provided clinical testing

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