ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10826G>C (p.Ser3609Thr)

dbSNP: rs727504307
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075058 SCV001240669 uncertain significance Retinal dystrophy 2018-06-06 criteria provided, single submitter clinical testing
Invitae RCV003660840 SCV004378360 uncertain significance not provided 2023-01-31 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. 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. ClinVar contains an entry for this variant (Variation ID: 866767). This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 3609 of the USH2A protein (p.Ser3609Thr).

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