ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4874T>G (p.Phe1625Cys)

dbSNP: rs771061659
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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 RCV001226777 SCV001399103 uncertain significance Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2019-07-14 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with CACNA1A-related conditions. This variant is present in population databases (rs771061659, ExAC 0.01%). This sequence change replaces phenylalanine with cysteine at codon 1626 of the CACNA1A protein (p.Phe1626Cys). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and cysteine.
Athena Diagnostics RCV003482347 SCV004229462 uncertain significance not provided 2023-06-07 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). Computational tools predict that this variant is damaging.

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