ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.4007C>T (p.Thr1336Met)

dbSNP: rs370725735
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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 RCV001920818 SCV002193533 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-11-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1336 of the CACNA1H protein (p.Thr1336Met). This variant is present in population databases (rs370725735, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. ClinVar contains an entry for this variant (Variation ID: 1414750). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CACNA1H protein function. 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.
Ambry Genetics RCV004603074 SCV005099713 uncertain significance Inborn genetic diseases 2024-05-20 criteria provided, single submitter clinical testing The c.4007C>T (p.T1336M) alteration is located in exon 20 (coding exon 19) of the CACNA1H gene. This alteration results from a C to T substitution at nucleotide position 4007, causing the threonine (T) at amino acid position 1336 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005016832 SCV005645437 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2024-04-18 criteria provided, single submitter clinical testing

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