ClinVar Miner

Submissions for variant NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser)

dbSNP: rs369356684
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995456 SCV001149630 uncertain significance not provided 2016-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002489494 SCV002788556 uncertain significance Epilepsy, childhood absence, susceptibility to, 6; Hyperaldosteronism, familial, type IV 2022-01-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769341 SCV004571827 uncertain significance Idiopathic generalized epilepsy; Hyperaldosteronism, familial, type IV 2023-03-27 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. 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 expected to disrupt CACNA1H protein function. ClinVar contains an entry for this variant (Variation ID: 807340). This variant has not been reported in the literature in individuals affected with CACNA1H-related conditions. This variant is present in population databases (rs369356684, gnomAD 0.006%). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 822 of the CACNA1H protein (p.Thr822Ser).
Ambry Genetics RCV004030195 SCV004915135 uncertain significance Inborn genetic diseases 2023-09-22 criteria provided, single submitter clinical testing The c.2465C>G (p.T822S) alteration is located in exon 11 (coding exon 10) of the CACNA1H gene. This alteration results from a C to G substitution at nucleotide position 2465, causing the threonine (T) at amino acid position 822 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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