ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.1738G>A (p.Val580Met)

gnomAD frequency: 0.00003  dbSNP: rs769158149
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001058709 SCV001223300 uncertain significance Fanconi anemia 2022-03-19 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 580 of the FANCA protein (p.Val580Met). This variant is present in population databases (rs769158149, gnomAD 0.006%). 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: 853819). 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.
Illumina Laboratory Services, Illumina RCV001115560 SCV001273546 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 RCV001115560 SCV002777134 uncertain significance Fanconi anemia complementation group A 2021-07-24 criteria provided, single submitter clinical testing
Natera, Inc. RCV001115560 SCV001457944 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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