ClinVar Miner

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

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000557785 SCV000649287 pathogenic Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-10-03 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 observed in individual(s) with febrile seizures (PMID: 19763161). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6366). This variant has been reported to affect SCN9A protein function (PMID: 19763161, 31372899). For these reasons, this variant has been classified as Pathogenic.
New Leaf Center RCV000006738 SCV001371862 benign Generalized epilepsy with febrile seizures plus, type 7 2020-07-10 criteria provided, single submitter case-control We identify the p.(Asn641Tyr) in heterozygous state in 18 Amish individuals without history of generalised febrile or afebrile seizures (one individual has focal seizures), inconstant with it as a cause of a monogenic epilepsy disorder. This variant had been previously described by Singh et al 2009.
OMIM RCV000006738 SCV000026929 uncertain significance Generalized epilepsy with febrile seizures plus, type 7 2009-09-01 no assertion criteria provided literature only
GenomeConnect - Invitae Patient Insights Network RCV001535456 SCV001749374 not provided Primary erythromelalgia; Hereditary sensory and autonomic neuropathy type IIA; Paroxysmal extreme pain disorder; Indifference to pain, congenital, autosomal recessive no assertion provided phenotyping only Variant interpreted as Pathogenic and reported on 01-22-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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