ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4606A>G (p.Asn1536Asp)

gnomAD frequency: 0.00003  dbSNP: rs375640203
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001886831 SCV002161334 uncertain significance Fanconi anemia 2023-02-14 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. This sequence change replaces asparagine, which is neutral and polar, with aspartic acid, which is acidic and polar, at codon 1536 of the FANCM protein (p.Asn1536Asp). This variant is present in population databases (rs375640203, gnomAD 0.003%). 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: 1388766). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated.
GeneDx RCV002274232 SCV002559279 uncertain significance not provided 2024-05-09 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; Observed in an individual with leukemia (PMID: 30102335); This variant is associated with the following publications: (PMID: 28881617, 30102335)

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