ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.154C>T (p.Arg52Trp)

gnomAD frequency: 0.00258  dbSNP: rs201379704
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080406 SCV000658521 benign Familial hyperkalemic periodic paralysis 2024-01-29 criteria provided, single submitter clinical testing
GeneDx RCV000607192 SCV000714762 benign not specified 2017-05-22 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Baylor Genetics RCV000680091 SCV000807532 uncertain significance Congenital myasthenic syndrome 16 2017-09-01 criteria provided, single submitter clinical testing Possible pathogenicity based on finding it once in our laboratory in trans with another variant [p.R3T] in a 1-year-old female with congenital hypotonia, proximal weakness, mixed developmental disorder, congenital myasthenia gravis, GERD, failure to thrive. Variant has also been seen in others in combination with additional variants (phase unknown) but without features of this syndrome.
Athena Diagnostics RCV000713090 SCV000843658 benign not provided 2018-02-01 criteria provided, single submitter clinical testing

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