ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1901A>G (p.Asp634Gly)

gnomAD frequency: 0.00001  dbSNP: rs151232042
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001248279 SCV001421751 uncertain significance Fanconi anemia 2022-02-20 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 634 of the FANCA protein (p.Asp634Gly). This variant is present in population databases (rs151232042, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 972287). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0". The glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
Ambry Genetics RCV002570375 SCV003598312 uncertain significance Inborn genetic diseases 2022-01-18 criteria provided, single submitter clinical testing The c.1901A>G (p.D634G) alteration is located in exon 22 (coding exon 22) of the FANCA gene. This alteration results from a A to G substitution at nucleotide position 1901, causing the aspartic acid (D) at amino acid position 634 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001248279 SCV002092663 uncertain significance Fanconi anemia 2020-02-04 no assertion criteria provided clinical testing

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