ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.5009T>C (p.Val1670Ala)

dbSNP: rs750077857
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003718296 SCV004509243 uncertain significance not provided 2023-06-05 criteria provided, single submitter clinical testing 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. This sequence change replaces valine, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 1670 of the USH2A protein (p.Val1670Ala). This variant is present in population databases (rs750077857, gnomAD 0.003%). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 30718709). ClinVar contains an entry for this variant (Variation ID: 636121). 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 USH2A protein function.
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV000787732 SCV000926735 likely pathogenic Retinitis pigmentosa 2018-04-01 no assertion criteria provided research

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