ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3061C>T (p.Gln1021Ter)

gnomAD frequency: 0.00003  dbSNP: rs751252167
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000538054 SCV000637012 uncertain significance Brugada syndrome 2022-09-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1021*) in the SCN10A gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease. This variant is present in population databases (rs751252167, gnomAD 0.007%). 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: 463245). 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 RCV003302814 SCV003999213 uncertain significance Cardiovascular phenotype 2023-06-16 criteria provided, single submitter clinical testing The p.Q1021* variant (also known as c.3061C>T), located in coding exon 16 of the SCN10A gene, results from a C to T substitution at nucleotide position 3061. This changes the amino acid from a glutamine to a stop codon within coding exon 16. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. However, the evidence for this gene-disease relationship is limited; therefore, the clinical significance of this alteration is unclear.

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