ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln)

gnomAD frequency: 0.00025  dbSNP: rs141729590
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001071165 SCV001236453 uncertain significance Fanconi anemia 2023-10-18 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 417 of the FANCM protein (p.Glu417Gln). This variant is present in population databases (rs141729590, gnomAD 0.09%). 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: 864066). 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 glutamine 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.
Baylor Genetics RCV001292690 SCV001481300 uncertain significance Spermatogenic failure 28 2019-07-17 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001732036 SCV001982631 uncertain significance not provided 2023-06-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002505660 SCV002806204 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-04 criteria provided, single submitter clinical testing

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