ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.2166G>C (p.Leu722Phe) (rs772492538)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697253 SCV000825853 uncertain significance Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7 2020-09-09 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 711 of the SCN9A protein (p.Leu711Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is present in population databases (rs772492538, ExAC 0.005%). This variant has not been reported in the literature in individuals with SCN9A-related conditions. ClinVar contains an entry for this variant (Variation ID: 575125). 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: Probably 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.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001311224 SCV001501319 uncertain significance not provided 2020-11-01 criteria provided, single submitter clinical testing
GeneDx RCV001311224 SCV001792752 uncertain significance not provided 2021-05-18 no assertion criteria provided clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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