ClinVar Miner

Submissions for variant NM_022047.4(DEF6):c.1850C>T (p.Ala617Val)

gnomAD frequency: 0.00002  dbSNP: rs866047183
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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 RCV001906583 SCV002168898 uncertain significance not provided 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 617 of the DEF6 protein (p.Ala617Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DEF6-related conditions. ClinVar contains an entry for this variant (Variation ID: 1405619). 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: "Deleterious"; PolyPhen-2: "Not Available"; 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.
Baylor Genetics RCV003147699 SCV003835575 uncertain significance Immunodeficiency 87 and autoimmunity 2022-09-19 criteria provided, single submitter clinical testing

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