ClinVar Miner

Submissions for variant NM_033100.4(CDHR1):c.1367C>A (p.Ala456Glu)

dbSNP: rs142742994
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV001075716 SCV001241344 uncertain significance Retinal dystrophy 2019-05-09 criteria provided, single submitter clinical testing
INSERM U1051, Institut des Neurosciences de Montpellier RCV001249867 SCV001424142 uncertain significance Retinitis pigmentosa 2020-06-24 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001303637 SCV001492886 uncertain significance not provided 2023-08-07 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) 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. ClinVar contains an entry for this variant (Variation ID: 867148). This missense change has been observed in individual(s) with retinal dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs142742994, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 456 of the CDHR1 protein (p.Ala456Glu).

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