Submissions for variant NM_006922.4(SCN3A):c.928A>T (p.Met310Leu)

gnomAD frequency: 0.00004  dbSNP: rs776260027

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000810077	SCV000950264	uncertain significance	not provided	2023-10-03	criteria provided, single submitter	clinical testing	This sequence change replaces methionine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 310 of the SCN3A protein (p.Met310Leu). This variant is present in population databases (rs776260027, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with SCN3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 654174). 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 SCN3A protein function. 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.
Revvity Omics, Revvity	RCV000810077	SCV003823175	uncertain significance	not provided	2022-10-19	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000810077	SCV004147113	likely benign	not provided	2023-06-01	criteria provided, single submitter	clinical testing	SCN3A: BP4