ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1603G>A (p.Gly535Ser)

dbSNP: rs757592514
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362713 SCV001558744 uncertain significance Fanconi anemia 2023-10-05 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 535 of the FANCM protein (p.Gly535Ser). This variant is present in population databases (rs757592514, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. ClinVar contains an entry for this variant (Variation ID: 1054239). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
GeneDx RCV001773719 SCV002002925 uncertain significance not provided 2020-02-03 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in an unaffected individual in a case-control study (Dicks 2017); This variant is associated with the following publications: (PMID: 28881617, 29727682)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001773719 SCV002774574 uncertain significance not provided 2021-06-29 criteria provided, single submitter clinical testing

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