ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4784C>A (p.Pro1595His)

gnomAD frequency: 0.00002  dbSNP: rs750818919
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000547355 SCV000626375 uncertain significance Fanconi anemia 2023-10-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with histidine, which is basic and polar, at codon 1595 of the FANCM protein (p.Pro1595His). This variant is present in population databases (rs750818919, gnomAD 0.02%). 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: 456272). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV004975637 SCV005582867 uncertain significance Inborn genetic diseases 2024-11-20 criteria provided, single submitter clinical testing The p.P1595H variant (also known as c.4784C>A), located in coding exon 20 of the FANCM gene, results from a C to A substitution at nucleotide position 4784. The proline at codon 1595 is replaced by histidine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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