ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1655A>G (p.Asn552Ser)

dbSNP: rs782043663
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208431 SCV001379819 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 552 of the MYO7A protein (p.Asn552Ser). This variant is present in population databases (rs782043663, gnomAD 0.004%). 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: 939096). 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.
GeneDx RCV001208431 SCV001824198 uncertain significance not provided 2022-01-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Revvity Omics, Revvity RCV001208431 SCV003817844 uncertain significance not provided 2022-06-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001833832 SCV002086581 uncertain significance Usher syndrome type 1B 2020-06-24 no assertion criteria provided clinical testing

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