ClinVar Miner

Submissions for variant NM_015509.4(NECAP1):c.758G>A (p.Gly253Glu)

gnomAD frequency: 0.00001  dbSNP: rs765737930
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001323734 SCV001514663 uncertain significance Developmental and epileptic encephalopathy, 21 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 253 of the NECAP1 protein (p.Gly253Glu). This variant is present in population databases (rs765737930, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with NECAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1023652). 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.
Ambry Genetics RCV004035108 SCV004980187 uncertain significance Inborn genetic diseases 2023-10-27 criteria provided, single submitter clinical testing The c.758G>A (p.G253E) alteration is located in exon 7 (coding exon 7) of the NECAP1 gene. This alteration results from a G to A substitution at nucleotide position 758, causing the glycine (G) at amino acid position 253 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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