ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.875C>T (p.Pro292Leu)

gnomAD frequency: 0.00004  dbSNP: rs781381334
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001222946 SCV001395071 uncertain significance Fanconi anemia 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 292 of the FANCM protein (p.Pro292Leu). This variant is present in population databases (rs781381334, 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: 951102). 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 tolerated. 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 RCV002256708 SCV002529898 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-16 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV002491700 SCV002777658 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-10-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002562571 SCV003676479 uncertain significance Inborn genetic diseases 2022-07-26 criteria provided, single submitter clinical testing The c.875C>T (p.P292L) alteration is located in exon 4 (coding exon 4) of the FANCM gene. This alteration results from a C to T substitution at nucleotide position 875, causing the proline (P) at amino acid position 292 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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