ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4847G>A (p.Gly1616Asp)

gnomAD frequency: 0.00001  dbSNP: rs1232508556
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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 RCV000804377 SCV000944286 uncertain significance Fanconi anemia 2022-11-08 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). 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: 649440). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1616 of the FANCM protein (p.Gly1616Asp).
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV003238230 SCV002011473 uncertain significance not provided 2021-11-03 criteria provided, single submitter clinical testing

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