ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.3181A>T (p.Thr1061Ser)

dbSNP: rs1968957429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001057218 SCV001221700 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1061 of the CACNA1H protein (p.Thr1061Ser). This variant is not present in population databases (gnomAD no frequency). 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: 852578). 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) performed at Invitae indicates that this missense variant is not expected to disrupt 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 RCV002553824 SCV003637144 uncertain significance Inborn genetic diseases 2022-08-17 criteria provided, single submitter clinical testing The c.3181A>T (p.T1061S) alteration is located in exon 16 (coding exon 15) of the CACNA1H gene. This alteration results from a A to T substitution at nucleotide position 3181, causing the threonine (T) at amino acid position 1061 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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