ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4931C>T (p.Ser1644Leu)

gnomAD frequency: 0.00001  dbSNP: rs745902196
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000635010 SCV000756388 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-08-30 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 529551). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1644 of the CACNA1H protein (p.Ser1644Leu).
Fulgent Genetics, Fulgent Genetics RCV002507069 SCV002815482 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2021-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528870 SCV003669927 uncertain significance Inborn genetic diseases 2022-12-21 criteria provided, single submitter clinical testing The c.4931C>T (p.S1644L) alteration is located in exon 28 (coding exon 27) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 4931, causing the serine (S) at amino acid position 1644 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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