ClinVar Miner

Submissions for variant NM_020661.4(AICDA):c.208C>G (p.Leu70Val)

dbSNP: rs929345572
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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 RCV001922056 SCV002149739 uncertain significance Hyper-IgM syndrome type 2 2021-09-17 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with AICDA-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with valine at codon 70 of the AICDA protein (p.Leu70Val). The leucine residue is moderately conserved and there is a small physicochemical difference between leucine and valine.

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