ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV001200229 SCV001371133 pathogenic not provided 2020-04-01 criteria provided, single submitter clinical testing
Invitae RCV001217902 SCV001389761 pathogenic Familial hyperkalemic periodic paralysis 2019-05-28 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with threonine at codon 1455 of the SCN4A protein (p.Ile1455Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with clinical features of proximal myopathy and paramyotonia congenita in families (PMID: 28024841). This variant has been reported to affect SCN4A protein function (PMID: 28024841). For these reasons, this variant has been classified as Pathogenic.
Athena Diagnostics Inc RCV001200229 SCV001476854 likely pathogenic not provided 2020-01-28 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity. Found in at least one patient with expected phenotype for this gene. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein. Assessment of experimental evidence suggests this variant results in abnormal protein function.
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV001564044 SCV001787136 pathogenic Paramyotonia congenita of von Eulenburg 2021-06-18 criteria provided, single submitter research ACMG codes: PS3; PS4M; PM1; PM2; PP1S; PP3; PP5

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