ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.964A>T (p.Met322Leu)

dbSNP: rs1886810282
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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 RCV001238563 SCV001411383 uncertain significance Fanconi anemia 2020-03-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with FANCM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with leucine at codon 322 of the FANCM protein (p.Met322Leu). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and leucine. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.

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