ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.3028A>G (p.Ile1010Val)

gnomAD frequency: 0.00008  dbSNP: rs375510818
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658271 SCV000780042 uncertain significance not provided 2018-05-18 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the SCN9A gene. The I999V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The I999V variant is observed in 7/23618 (0.03%) alleles from individuals of African background (Lek et al., 2016). The I999V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Labcorp Genetics (formerly Invitae), Labcorp RCV001210899 SCV001382410 likely benign Neuropathy, hereditary sensory and autonomic, type 2A; Generalized epilepsy with febrile seizures plus, type 7 2024-10-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV003163031 SCV003893454 uncertain significance Inborn genetic diseases 2023-02-21 criteria provided, single submitter clinical testing Unlikely to be causative of SCN9A-related neuropathic pain syndromes (AD) Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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