ClinVar Miner

Submissions for variant NM_139318.5(KCNH5):c.2632G>T (p.Ala878Ser)

dbSNP: rs376837885
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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 RCV002007028 SCV002288001 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2024-10-16 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 878 of the KCNH5 protein (p.Ala878Ser). This variant is present in population databases (rs376837885, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with KCNH5-related conditions. ClinVar contains an entry for this variant (Variation ID: 1506844). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt KCNH5 protein function with a negative predictive value of 95%. 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 RCV004631924 SCV005122600 uncertain significance Inborn genetic diseases 2024-06-02 criteria provided, single submitter clinical testing The c.2632G>T (p.A878S) alteration is located in exon 11 (coding exon 11) of the KCNH5 gene. This alteration results from a G to T substitution at nucleotide position 2632, causing the alanine (A) at amino acid position 878 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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