ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1373T>A (p.Val458Asp)

gnomAD frequency: 0.00001  dbSNP: rs760942217
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003769393 SCV004642548 uncertain significance not provided 2023-12-25 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 458 of the CDHR1 protein (p.Val458Asp). This variant is present in population databases (rs760942217, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of CDHR1-related conditions (PMID: 31456290, 32681094, 35260635; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 812260). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CDHR1 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.
Sharon lab, Hadassah-Hebrew University Medical Center RCV002267754 SCV001160965 likely pathogenic Cone-rod dystrophy 2019-06-23 no assertion criteria provided research

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