ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) (rs121908918)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557785 SCV000649287 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2019-07-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine with tyrosine at codon 641 of the SCN9A protein (p.Asn641Tyr). The asparagine residue is highly conserved and there is a large physicochemical difference between asparagine and tyrosine. This variant is present in population databases (rs121908918, ExAC 0.002%). This variant has been reported to segregate with febrile seizures in a single large family (PMID: 19763161). ClinVar contains an entry for this variant (Variation ID: 6366). Experimental studies have shown that mice that are homozygous for this variant have increased susceptibility to seizures (PMID: 19763161). 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.
OMIM RCV000006738 SCV000026929 pathogenic Generalized epilepsy with febrile seizures plus, type 7 2009-09-01 no assertion criteria provided literature only

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