ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) (rs1131691776)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493039 SCV000582816 likely pathogenic not provided 2016-07-18 criteria provided, single submitter clinical testing The L1612P variant has been reported in a extended family diagnosed with a cold sensitive paroxysmal extreme pain disorder (Suter et al., 2015). In vitro functional studies of the L1612P variant demonstrated abnormal electrophysiologic properties compared with controls (Suter et al., 2015). The L1612P variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The L1612P variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, L1612P is likely pathogenic
Xenon Pharmaceuticals, Inc. RCV000656134 SCV000611130 pathogenic Paroxysmal extreme pain disorder 2014-01-01 no assertion criteria provided clinical testing Variant is also found in another patient with the same disease published by Suter et al 2015 (DOI 10.1097/ALN.0000000000000476)

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