ClinVar Miner

Submissions for variant NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)

gnomAD frequency: 0.00004  dbSNP: rs770694096
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000694016 SCV000822441 uncertain significance Hyperkalemic periodic paralysis 2023-09-19 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SCN4A protein function. ClinVar contains an entry for this variant (Variation ID: 572594). This variant has not been reported in the literature in individuals affected with SCN4A-related conditions. This variant is present in population databases (rs770694096, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 807 of the SCN4A protein (p.Ala807Thr).
Athena Diagnostics Inc RCV000992891 SCV001145477 likely benign not provided 2019-04-12 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000992891 SCV003821265 uncertain significance not provided 2020-05-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003303139 SCV004000086 uncertain significance Inborn genetic diseases 2023-05-09 criteria provided, single submitter clinical testing The c.2419G>A (p.A807T) alteration is located in exon 14 (coding exon 14) of the SCN4A gene. This alteration results from a G to A substitution at nucleotide position 2419, causing the alanine (A) at amino acid position 807 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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