ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2017A>C (p.Ser673Arg)

gnomAD frequency: 0.00004  dbSNP: rs756249141
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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 RCV000816774 SCV000957299 uncertain significance Fanconi anemia 2023-04-22 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 659728). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs756249141, gnomAD 0.01%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 673 of the FANCM protein (p.Ser673Arg).
GeneDx RCV001772120 SCV002002510 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002487803 SCV002791723 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-04-30 criteria provided, single submitter clinical testing

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