ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.10820A>C (p.His3607Pro)

gnomAD frequency: 0.00002  dbSNP: rs750321557
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001060442 SCV001225129 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 3607 of the USH2A protein (p.His3607Pro). This variant is present in population databases (rs750321557, gnomAD 0.04%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (PMID: 28945494; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 855225). 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 with a negative predictive value of 95%. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001060442 SCV001825871 likely pathogenic not provided 2023-01-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28945494)
Genome-Nilou Lab RCV003455273 SCV004182176 likely pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003467808 SCV004208151 likely pathogenic Retinitis pigmentosa 39 2023-10-19 criteria provided, single submitter clinical testing

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