Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000206926 | SCV000813821 | pathogenic | Familial hyperkalemic periodic paralysis | 2021-12-17 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects SCN4A function (PMID: 11102465, 11912116, 21881211, 25024265). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 5911). This missense change has been observed in individual(s) with hypokalemic periodic paralysis (PMID: 10599760, 18162704, 21841462). In at least one individual the variant was observed to be de novo. It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs80338784, gnomAD 0.009%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 669 of the SCN4A protein (p.Arg669His). |
Athena Diagnostics Inc | RCV003482224 | SCV004230009 | pathogenic | not provided | 2023-03-21 | criteria provided, single submitter | clinical testing | The frequency of this variant in the general population is consistent with pathogenicity (http://gnomad.broadinstitute.org). This variant appears to occur de novo in multiple individuals with clinical features of hypokalemic periodic paralysis. Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 11102465, 11912116, 21881211, 25024265) The variant is located in a region that is considered important for protein function and/or structure. |
OMIM | RCV000006274 | SCV000026456 | pathogenic | Hypokalemic periodic paralysis, type 2 | 2002-04-01 | no assertion criteria provided | literature only | |
Gene |
RCV000006274 | SCV000040614 | not provided | Hypokalemic periodic paralysis, type 2 | no assertion provided | literature only | ||
Gene |
RCV000206926 | SCV000262562 | not provided | Familial hyperkalemic periodic paralysis | no assertion provided | literature only |