ClinVar Miner

Submissions for variant NM_006514.4(SCN10A):c.3087+2T>C

gnomAD frequency: 0.00001  dbSNP: rs765046340
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001338308 SCV001531969 uncertain significance Brugada syndrome 2023-08-17 criteria provided, single submitter clinical testing This variant is also known as 38768095A>G. This sequence change affects a donor splice site in intron 16 of the SCN10A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), however the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in SCN10A cause disease. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. Disruption of this splice site has been observed in individual(s) with Brugada syndrome (PMID: 26220970, 31292628). ClinVar contains an entry for this variant (Variation ID: 1035439). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.

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