ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) (rs185941768)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000486439 SCV000615062 benign not specified 2017-06-06 criteria provided, single submitter clinical testing
GeneDx RCV000766484 SCV000573819 uncertain significance not provided 2018-10-16 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN4A gene. The A488T variant has been reported previously in association with hyperkalemic periodic paralysis; however, additional information was not provided (Charles et al., 2013). The A488T variant is observed in 25/23654 (0.1%) alleles from individuals of Finnish background in large population cohorts (Lek et al., 2016). The A488T variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, in-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Illumina Clinical Services Laboratory,Illumina RCV000393899 SCV000405261 likely benign Paramyotonia congenita of von Eulenburg 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000301623 SCV000405262 likely benign Potassium aggravated myotonia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000358802 SCV000405263 likely benign Hypokalemic periodic paralysis 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000393897 SCV000405264 likely benign Congenital Myasthenic Syndrome, Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000307205 SCV000405265 likely benign Hyperkalemic Periodic Paralysis 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000537715 SCV000658520 likely benign Hyperkalemic Periodic Paralysis Type 1 2017-12-19 criteria provided, single submitter clinical testing

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