ClinVar Miner

Submissions for variant NM_020937.4(FANCM):c.4565A>G (p.Asp1522Gly)

gnomAD frequency: 0.00001  dbSNP: rs199514189
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000995173 SCV001149209 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001046740 SCV001210654 uncertain significance Fanconi anemia 2024-02-26 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 1522 of the FANCM protein (p.Asp1522Gly). This variant is present in population databases (rs199514189, gnomAD 0.01%). 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: 807111). 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 glycine 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 RCV002479170 SCV002788519 uncertain significance Spermatogenic failure 28; Premature ovarian failure 15 2021-12-20 criteria provided, single submitter clinical testing
Ambry Genetics RCV003353109 SCV004065507 uncertain significance Inborn genetic diseases 2023-08-21 criteria provided, single submitter clinical testing The c.4565A>G (p.D1522G) alteration is located in exon 18 (coding exon 18) of the FANCM gene. This alteration results from a A to G substitution at nucleotide position 4565, causing the aspartic acid (D) at amino acid position 1522 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV000995173 SCV005078798 uncertain significance not provided 2023-07-20 criteria provided, single submitter clinical testing 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

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