ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.5177C>T (p.Pro1726Leu)

gnomAD frequency: 0.00008  dbSNP: rs750384175
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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 RCV000319300 SCV000751925 uncertain significance Fanconi anemia 2024-01-17 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 1726 of the FANCM protein (p.Pro1726Leu). This variant is present in population databases (rs750384175, gnomAD 0.009%). 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: 313226). 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. 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 RCV001660633 SCV001874135 uncertain significance not provided 2024-03-05 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; Identified in individuals with ovarian and other cancers (PMID: 26689913, 27713038, 28717660, 28881617, 32268276); This variant is associated with the following publications: (PMID: 28717660, 26689913, 32268276, 27713038, 28881617)
Fulgent Genetics, Fulgent Genetics RCV002480132 SCV002780489 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2022-03-06 criteria provided, single submitter clinical testing

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