ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser)

gnomAD frequency: 0.00030  dbSNP: rs199651516
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000539082 SCV000658529 likely benign Familial hyperkalemic periodic paralysis 2023-07-17 criteria provided, single submitter clinical testing
GeneDx RCV001548373 SCV001768270 uncertain significance not provided 2021-01-04 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002526745 SCV003726749 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.2200G>T (p.A734S) alteration is located in exon 13 (coding exon 13) of the SCN4A gene. This alteration results from a G to T substitution at nucleotide position 2200, causing the alanine (A) at amino acid position 734 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001548373 SCV003821306 uncertain significance not provided 2021-07-06 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001548373 SCV004224424 uncertain significance not provided 2023-02-23 criteria provided, single submitter clinical testing BP4

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