ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn)

gnomAD frequency: 0.00149  dbSNP: rs147623238
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000657119 SCV000293912 uncertain significance not provided 2024-04-24 criteria provided, single submitter clinical testing Reported as a variant of uncertain significance in a patient with epilepsy (PMID: 36539902); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; In silico analysis suggests this variant may impact gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 36539902)
Eurofins Ntd Llc (ga) RCV000657119 SCV000337702 uncertain significance not provided 2017-07-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001079212 SCV000559271 benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2025-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002436062 SCV002753784 likely benign Inborn genetic diseases 2021-01-07 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV004532985 SCV004751936 likely benign SCN9A-related disorder 2019-07-12 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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