ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3152T>C (p.Leu1051Ser)

dbSNP: rs1888655331
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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 RCV001300930 SCV001490081 uncertain significance Fanconi anemia 2020-07-20 criteria provided, single submitter clinical testing This sequence change replaces leucine with serine at codon 1051 of the FANCM protein (p.Leu1051Ser). The leucine residue is weakly conserved and there is a large physicochemical difference between leucine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FANCM-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. 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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