ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.2452A>G (p.Ile818Val)

gnomAD frequency: 0.00001  dbSNP: rs374547580
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001303604 SCV001492853 uncertain significance not provided 2022-03-10 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 818 of the MYO7A protein (p.Ile818Val). This variant is not present in population databases (gnomAD no frequency). 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: 991225). 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. RCV001279403 SCV001466498 uncertain significance Usher syndrome type 1B 2020-04-16 no assertion criteria provided clinical testing

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