ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.1714G>A (p.Asp572Asn) (rs747040987)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000460554 SCV000548365 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-10-27 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with asparagine at codon 572 of the SCN9A protein (p.Asp572Asn). The aspartic acid residue is highly conserved and there is a small physicochemical difference between aspartic acid and asparagine. This variant is present in population databases (rs747040987, ExAC 0.04%). This variant has not been reported in the literature in individuals with SCN9A-related disease. ClinVar contains an entry for this variant (Variation ID: 408586). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C1). 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. 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000730081 SCV000857792 uncertain significance not provided 2017-11-14 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002628 SCV001160611 uncertain significance not specified 2019-06-17 criteria provided, single submitter clinical testing The SCN9A c.1714G>A, p.Asp572Asn variant (rs747040987), to our knowledge, is not reported in the medical literature but is reported as uncertain significance in ClinVar (Variation ID: 408586). This variant is listed in the Genome Aggregation Database (gnomAD) with a frequency of 0.04 percent in the Latino population (identified on 15 out of 34,528 chromosomes). The aspartic acid at position 572 is highly conserved and computational analyses of the effects of the p.Asp572Asn variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: probably damaging). Altogether, there is not enough evidence to classify the p.Asp572Asn variant with certainty.
Mayo Clinic Laboratories, Mayo Clinic RCV000730081 SCV001715729 uncertain significance not provided 2020-11-30 criteria provided, single submitter clinical testing

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