ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)

gnomAD frequency: 0.00006  dbSNP: rs587778321
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000547555 SCV000626206 uncertain significance Fanconi anemia 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1425 of the FANCA protein (p.Arg1425Cys). This variant is present in population databases (rs587778321, 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: 134284). 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.
Counsyl RCV000665723 SCV000789888 uncertain significance Fanconi anemia complementation group A 2017-02-24 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000665723 SCV001273249 uncertain significance Fanconi anemia complementation group A 2018-01-12 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV000665723 SCV001984189 uncertain significance Fanconi anemia complementation group A 2020-11-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000547555 SCV002535052 uncertain significance Fanconi anemia 2022-03-09 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV000665723 SCV002783032 uncertain significance Fanconi anemia complementation group A 2021-11-08 criteria provided, single submitter clinical testing
ITMI RCV000120957 SCV000085125 not provided not specified 2013-09-19 no assertion provided reference population
Natera, Inc. RCV000665723 SCV001458735 uncertain significance Fanconi anemia complementation group A 2020-09-16 no assertion criteria provided clinical testing

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