ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs)

dbSNP: rs1131691712
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493758 SCV000582694 pathogenic not provided 2017-05-04 criteria provided, single submitter clinical testing The c.3106dupT variant in the CACNA1A gene has not been reported previously as a pathogenicvariant nor as a benign variant, to our knowledge. The c.3106dupT variant causes a frameshift startingwith codon Serine 1036, changes this amino acid to a Phenylalanine residue, and creates a prematureStop codon at position 32 of the new reading frame, denoted p.Ser1036PhefsX32. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsensemediatedmRNA decay. The c.3106dupT variant is not observed in large population cohorts (Lek etal., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.3106dupTas a pathogenic variant.
Ambry Genetics RCV000622578 SCV000741512 pathogenic Inborn genetic diseases 2016-04-28 criteria provided, single submitter clinical testing

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