ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4687G>C (p.Ala1563Pro)

gnomAD frequency: 0.00001  dbSNP: rs377410891
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773206 SCV002001631 uncertain significance not provided 2023-05-05 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 RCV002477990 SCV002777959 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003635971 SCV004473293 uncertain significance Fanconi anemia 2023-08-24 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 1315012). This variant has not been reported in the literature in individuals affected with FANCM-related conditions. This variant is present in population databases (rs377410891, gnomAD 0.008%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 1563 of the FANCM protein (p.Ala1563Pro).

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