ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3538A>G (p.Asn1180Asp) (rs750269576)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000518358 SCV000615129 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000765524 SCV000896838 uncertain significance Primary erythromelalgia; Hereditary sensory and autonomic neuropathy type IIA; Paroxysmal extreme pain disorder; Severe myoclonic epilepsy in infancy; Indifference to pain, congenital, autosomal recessive; Generalized epilepsy with febrile seizures plus, type 7 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001203277 SCV001374433 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-08-21 criteria provided, single submitter clinical testing This sequence change replaces asparagine with aspartic acid at codon 1169 of the SCN9A protein (p.Asn1169Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with SCN9A-related conditions. ClinVar contains an entry for this variant (Variation ID: 448293). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Tolerated; PolyPhen-2: Possibly Damaging; Align-GVGD: Class C0). 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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