ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)

gnomAD frequency: 0.00004  dbSNP: rs965036018
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803976 SCV000943865 uncertain significance Fanconi anemia 2024-06-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 10 of the FANCA protein (p.Ala10Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 649118). 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 with a negative predictive value of 95%. 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.
Illumina Laboratory Services, Illumina RCV001120660 SCV001279160 uncertain significance Fanconi anemia complementation group A 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV001120660 SCV002787786 uncertain significance Fanconi anemia complementation group A 2021-12-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV004972974 SCV005586485 uncertain significance Inborn genetic diseases 2024-11-17 criteria provided, single submitter clinical testing The p.A10T variant (also known as c.28G>A), located in coding exon 1 of the FANCA gene, results from a G to A substitution at nucleotide position 28. The alanine at codon 10 is replaced by threonine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.
Natera, Inc. RCV000803976 SCV002093162 uncertain significance Fanconi anemia 2020-03-15 no assertion criteria provided clinical testing

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