ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu) (rs750835733)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000208178 SCV000263797 likely pathogenic Long QT syndrome 2015-07-08 criteria provided, single submitter clinical testing
Invitae RCV000208178 SCV001226554 uncertain significance Long QT syndrome 2019-12-27 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 857 of the CACNA1C protein (p.Pro857Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with long QT syndrome (PMID: 23677916, 28600387, Invitae). ClinVar contains an entry for this variant (Variation ID: 222515). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). This variant disrupts the p.Pro857 amino acid residue in CACNA1C. Other variant(s) that disrupt this residue have been observed in individuals with CACNA1C-related conditions (PMID: 23677916), which suggests that this may be a clinically significant amino acid residue. 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.
OMIM RCV000782178 SCV000920646 pathogenic Long QT syndrome 8 2021-08-06 no assertion criteria provided literature only

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