ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) (rs121908216)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517293 SCV000612549 likely pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing
GeneDx RCV000517293 SCV000617514 likely pathogenic not provided 2018-04-06 criteria provided, single submitter clinical testing The R1661H variant in the CACNA1A gene has been reported (as R1666H due to the use of alternate nomenclature) in several related individuals with features of a CACNA1A-related disorder, and was demonstrated to completely segregate with disease (Friend et al., 1999). This variant is not observed in large population cohorts (Lek et al., 2016). The R1661H variant is a conservative amino acid substitution, located within the S4 transmembrane segment of domain IV (Luo et al., 2017), which is not likely to impact secondary protein structure as these residues share similar properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. We interpret R1661H as a likely pathogenic variant.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000009017 SCV000886432 likely pathogenic Episodic ataxia type 2 2018-10-23 criteria provided, single submitter research
OMIM RCV000009017 SCV000029232 pathogenic Episodic ataxia type 2 1999-09-01 no assertion criteria provided literature only
UniProtKB/Swiss-Prot RCV000009017 SCV000090859 not provided Episodic ataxia type 2 no assertion provided not provided

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