ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.440G>A (p.Arg147His)

gnomAD frequency: 0.00003  dbSNP: rs111033512
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Total submissions: 3
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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 RCV000036142 SCV000059794 uncertain significance not specified 2011-03-09 criteria provided, single submitter clinical testing The Arg147His variant in MYO7A has not been reported in the literature nor previ ously identified in any other families by our laboratory. Computational analyses (PolyPhen2, SIFT) of this amino acid change suggest that it may impact the prot ein based upon high amino acid conservation at Arg147 across many species. Howev er, this information is not predictive enough to assume pathogenicity. In summar y, the clinical significance of the Arg147His variant cannot be determined at th is time.
Invitae RCV002513373 SCV003461400 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 147 of the MYO7A protein (p.Arg147His). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 43238). 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 not 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.
Natera, Inc. RCV001826547 SCV002093116 uncertain significance Usher syndrome type 1B 2020-12-02 no assertion criteria provided clinical testing

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