ClinVar Miner

Submissions for variant NM_206937.2(LIG4):c.689A>T (p.Asp230Val)

dbSNP: rs1388798970
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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 RCV001047822 SCV001211804 uncertain significance DNA ligase IV deficiency 2022-10-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 844865). 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 valine, which is neutral and non-polar, at codon 230 of the LIG4 protein (p.Asp230Val).
GenomeConnect - Invitae Patient Insights Network RCV001047822 SCV001749837 not provided DNA ligase IV deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 12-03-2019 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.

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