ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2758C>T (p.Pro920Ser)

gnomAD frequency: 0.00002  dbSNP: rs750238406
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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 RCV000530602 SCV000626365 uncertain significance Fanconi anemia 2023-09-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 920 of the FANCM protein (p.Pro920Ser). This variant is present in population databases (rs750238406, gnomAD 0.005%). 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: 456262). 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 RCV003105941 SCV003761579 uncertain significance not provided 2022-07-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003362824 SCV004063974 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.2758C>T (p.P920S) alteration is located in exon 14 (coding exon 14) of the FANCM gene. This alteration results from a C to T substitution at nucleotide position 2758, causing the proline (P) at amino acid position 920 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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