ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)

gnomAD frequency: 0.00006  dbSNP: rs943773590
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000461194 SCV000547744 uncertain significance Fanconi anemia 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 16 of the FANCA protein (p.Gly16Arg). 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 FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408172). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt FANCA 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 RCV002489041 SCV002797536 uncertain significance Fanconi anemia complementation group A 2021-07-26 criteria provided, single submitter clinical testing
Natera, Inc. RCV000461194 SCV002093158 uncertain significance Fanconi anemia 2021-01-08 no assertion criteria provided clinical testing

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