ClinVar Miner

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

gnomAD frequency: 0.00002  dbSNP: rs965036018
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803976 SCV000943865 uncertain significance Fanconi anemia 2021-10-07 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 10 of the FANCA protein (p.Ala10Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with FANCA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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
Natera, Inc. RCV000803976 SCV002093162 uncertain significance Fanconi anemia 2020-03-15 no assertion criteria provided clinical testing

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