ClinVar Miner

Submissions for variant NM_020822.3(KCNT1):c.1150G>A (p.Asp384Asn) (rs762752381)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000992237 SCV001144339 uncertain significance not provided 2019-06-04 criteria provided, single submitter clinical testing
Invitae RCV001051512 SCV001215668 uncertain significance Early infantile epileptic encephalopathy 14; Epilepsy, nocturnal frontal lobe, 5 2020-10-13 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 384 of the KCNT1 protein (p.Asp384Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs762752381, ExAC 0.006%). This variant has not been reported in the literature in individuals with KCNT1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). 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.

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