ClinVar Miner

Submissions for variant NM_000719.7(CACNA1C):c.5164T>G (p.Phe1722Val)

gnomAD frequency: 0.00001  dbSNP: rs751493277
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000631613 SCV000752695 likely benign Long QT syndrome 2023-09-04 criteria provided, single submitter clinical testing
GeneDx RCV001766344 SCV001999851 uncertain significance not provided 2019-12-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Reported in ClinVar as a variant of uncertain significance (ClinVar Variant ID# 526947; Landrum et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
Ambry Genetics RCV002528856 SCV003734901 uncertain significance Inborn genetic diseases 2022-06-17 criteria provided, single submitter clinical testing The c.5164T>G (p.F1722V) alteration is located in exon 42 (coding exon 42) of the CACNA1C gene. This alteration results from a T to G substitution at nucleotide position 5164, causing the phenylalanine (F) at amino acid position 1722 to be replaced by a valine (V). The p.F1722V alteration is predicted to be deleterious by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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