ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4936G>C (p.Ala1646Pro)

gnomAD frequency: 0.00005  dbSNP: rs751104662
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000812205 SCV000952510 uncertain significance Fanconi anemia 2021-06-06 criteria provided, single submitter clinical testing 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 variant has been observed in an unaffected control individual with a family history of leukemia (PMID: 26067930). This variant is present in population databases (rs751104662, ExAC 0.02%). This sequence change replaces alanine with proline at codon 1646 of the FANCM protein (p.Ala1646Pro). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and proline.

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