ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.3968C>T (p.Pro1323Leu)

dbSNP: rs1369746830
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001070960 SCV001236240 uncertain significance Fanconi anemia 2022-06-04 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 1323 of the FANCM protein (p.Pro1323Leu). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 863890). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The leucine 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.
Fulgent Genetics, Fulgent Genetics RCV002482138 SCV002779846 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-11-24 criteria provided, single submitter clinical testing

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