ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6570G>A (p.Met2190Ile)

gnomAD frequency: 0.00001  dbSNP: rs376900309
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Total submissions: 4
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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 RCV000036242 SCV000059894 uncertain significance not specified 2010-04-28 criteria provided, single submitter clinical testing
GeneDx RCV001770054 SCV002001468 uncertain significance not provided 2021-01-08 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
Invitae RCV001770054 SCV003523543 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2190 of the MYO7A protein (p.Met2190Ile). This variant is present in population databases (rs376900309, gnomAD 0.008%). 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: 43336). 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. RCV001835647 SCV002088549 uncertain significance Usher syndrome type 1B 2019-11-11 no assertion criteria provided clinical testing

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