ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2158C>T (p.Pro720Ser)

gnomAD frequency: 0.00004  dbSNP: rs751262177
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000630876 SCV000751847 uncertain significance Fanconi anemia 2023-10-24 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 720 of the FANCM protein (p.Pro720Ser). This variant is present in population databases (rs751262177, gnomAD 0.004%). 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: 526355). 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. 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.
Sema4, Sema4 RCV002255480 SCV002527324 uncertain significance Hereditary cancer-predisposing syndrome 2021-09-16 criteria provided, single submitter curation
GeneDx RCV002469225 SCV002765643 uncertain significance not provided 2022-06-13 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
Fulgent Genetics, Fulgent Genetics RCV002483772 SCV002789305 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002528846 SCV003691763 uncertain significance Inborn genetic diseases 2022-05-18 criteria provided, single submitter clinical testing The c.2158C>T (p.P720S) alteration is located in exon 12 (coding exon 12) of the FANCM gene. This alteration results from a C to T substitution at nucleotide position 2158, causing the proline (P) at amino acid position 720 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mendelics RCV002255480 SCV004814097 likely benign Hereditary cancer-predisposing syndrome 2024-04-08 criteria provided, single submitter clinical testing

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