ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.2634_2635delinsTC (p.Gly879Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003042677 SCV003337431 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2023-08-18 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 879 of the SCN2A protein (p.Gly879Arg). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. This missense change has been observed in individual(s) with clinical features of developmental and epileptic encephalopathy (PMID: 25473036, 35417276; Invitae; external communication). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 2114224). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. For these reasons, this variant has been classified as Pathogenic.

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