ClinVar Miner

Submissions for variant NM_015509.4(NECAP1):c.674C>G (p.Ala225Gly)

dbSNP: rs2120487076
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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 RCV002038813 SCV002311569 uncertain significance Developmental and epileptic encephalopathy, 21 2023-08-17 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with glycine, which is neutral and non-polar, at codon 225 of the NECAP1 protein (p.Ala225Gly). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1523362). This variant has not been reported in the literature in individuals affected with NECAP1-related conditions. This variant is not present in population databases (gnomAD no frequency).

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