ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1271G>A (p.Arg424His)

gnomAD frequency: 0.00001  dbSNP: rs139726733
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000819671 SCV000960344 uncertain significance Fanconi anemia 2023-09-01 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The histidine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 662103). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs139726733, gnomAD 0.002%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 424 of the FANCM protein (p.Arg424His).
GeneDx RCV001772132 SCV002003123 uncertain significance not provided 2024-09-11 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 37673932)
Fulgent Genetics, Fulgent Genetics RCV002487825 SCV002782274 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-29 criteria provided, single submitter clinical testing
Daryl Scott Lab, Baylor College of Medicine RCV003221306 SCV003915718 uncertain significance FANCM-related disorder 2023-04-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV001772132 SCV005191354 uncertain significance not provided criteria provided, single submitter not provided

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