ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.601G>A (p.Gly201Arg)

gnomAD frequency: 0.00002  dbSNP: rs139736490
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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 RCV001242709 SCV001415815 uncertain significance Fanconi anemia 2023-09-26 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. 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. ClinVar contains an entry for this variant (Variation ID: 967728). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs139736490, gnomAD 0.06%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 201 of the FANCM protein (p.Gly201Arg).
GeneDx RCV002464416 SCV002759158 uncertain significance not provided 2022-06-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002484336 SCV002782295 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-23 criteria provided, single submitter clinical testing

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