ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.4057-1G>A

dbSNP: rs1575205608
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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 RCV001869233 SCV002173301 uncertain significance Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 2024-02-15 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 24 of the SCN11A 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 SCN11A cause disease. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with peripheral neuropathy (PMID: 24776970, 30554136). ClinVar contains an entry for this variant (Variation ID: 637860). 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.
Inherited Neuropathy Consortium RCV000790199 SCV000929591 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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