ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.2462A>G (p.Asp821Gly)

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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 RCV002572573 SCV002933056 uncertain significance DNA ligase IV deficiency 2022-03-18 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals affected with LIG4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 821 of the LIG4 protein (p.Asp821Gly).
Ambry Genetics RCV004064342 SCV004899210 uncertain significance Inborn genetic diseases 2023-01-25 criteria provided, single submitter clinical testing The c.2462A>G (p.D821G) alteration is located in exon 2 (coding exon 1) of the LIG4 gene. This alteration results from a A to G substitution at nucleotide position 2462, causing the aspartic acid (D) at amino acid position 821 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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