ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.5548C>G (p.Gln1850Glu)

dbSNP: rs149504103
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mayo Clinic Laboratories, Mayo Clinic RCV001508499 SCV001714700 uncertain significance not provided 2020-08-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865944 SCV002218004 uncertain significance Brugada syndrome 2024-10-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1850 of the SCN10A protein (p.Gln1850Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN10A-related conditions. ClinVar contains an entry for this variant (Variation ID: 1163442). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002343699 SCV002648786 uncertain significance Cardiovascular phenotype 2021-09-16 criteria provided, single submitter clinical testing The p.Q1850E variant (also known as c.5548C>G), located in coding exon 27 of the SCN10A gene, results from a C to G substitution at nucleotide position 5548. The glutamine at codon 1850 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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