ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=)

dbSNP: rs184723350
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000725282 SCV000335681 uncertain significance not provided 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV000725282 SCV000525243 benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000374998 SCV000612533 benign not specified 2016-11-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001083052 SCV000656754 benign Episodic ataxia type 2; Developmental and epileptic encephalopathy, 42 2024-01-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV002338835 SCV002619085 benign Inborn genetic diseases 2019-02-23 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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