ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.2267G>T (p.Arg756Leu)

dbSNP: rs142763060
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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 RCV001061563 SCV001226310 uncertain significance Fanconi anemia 2023-08-10 criteria provided, single submitter clinical testing This variant is present in population databases (rs142763060, gnomAD 0.03%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 756 of the FANCM protein (p.Arg756Leu). 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: 856163). 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 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 RCV002489671 SCV002790211 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-16 criteria provided, single submitter clinical testing
Ambry Genetics RCV004031962 SCV004869903 uncertain significance Inborn genetic diseases 2023-12-16 criteria provided, single submitter clinical testing The c.2267G>T (p.R756L) alteration is located in exon 13 (coding exon 13) of the FANCM gene. This alteration results from a G to T substitution at nucleotide position 2267, causing the arginine (R) at amino acid position 756 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV004789393 SCV005401616 uncertain significance not provided 2024-05-14 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; This variant is associated with the following publications: (PMID: 26759717, 26689913, 29641532)

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