ClinVar Miner

Submissions for variant NM_001349253.2(SCN11A):c.5067C>G (p.Phe1689Leu)

gnomAD frequency: 0.00034  dbSNP: rs201107889
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000551668 SCV000654760 likely benign Hereditary sensory and autonomic neuropathy type 7; Familial episodic pain syndrome with predominantly lower limb involvement 2024-10-27 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001509212 SCV001715812 uncertain significance not provided 2021-04-19 criteria provided, single submitter clinical testing
GeneDx RCV001509212 SCV001765377 uncertain significance not provided 2020-12-02 criteria provided, single submitter clinical testing Identified as heterozygous in a patient with painful peripheral neuropathy who did not have other pathogenic variants in SCN9A or SCN10A (Huang et al., 2014); Published functional studies demonstrate a damaging effect with increased activity of Nav1.9 (Zhou et al., 2017); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 30557356, 26243570, 26462871, 29213238, 24776970, 30046661)
Ambry Genetics RCV002341453 SCV002643593 likely benign Inborn genetic diseases 2021-02-03 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.
Inherited Neuropathy Consortium RCV000790198 SCV000929590 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only
Inherited Neuropathy Consortium RCV001027472 SCV001190042 uncertain significance Hereditary motor neuron disease no assertion criteria provided provider interpretation

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