ClinVar Miner

Submissions for variant NM_001127222.2(CACNA1A):c.4550G>T (p.Gly1517Val)

dbSNP: rs2144748218
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002052074 SCV002318494 uncertain significance Developmental and epileptic encephalopathy, 42 2022-03-22 criteria provided, single submitter clinical testing A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV001320269, PMID:32901917). It is not observed in the gnomAD v2.1.1 dataset. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.887>=0.6). Therefore, this variant is classified as uncertain significance according to the recommendation of ACMG/AMP guideline.

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