ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.575A>T (p.Gln192Leu)

gnomAD frequency: 0.00001  dbSNP: rs768031730
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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 RCV001338061 SCV001531697 uncertain significance Fanconi anemia 2021-12-14 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 192 of the FANCM protein (p.Gln192Leu). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 1035226). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is not present in population databases (gnomAD no frequency).
GeneDx RCV001568753 SCV001792678 uncertain significance not provided 2022-04-25 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
OMIM RCV004595595 SCV005088538 pathogenic Premature ovarian failure 15 2024-07-23 no assertion criteria provided literature only

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