ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)

gnomAD frequency: 0.00035  dbSNP: rs143642304
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204450 SCV000262267 likely benign Fanconi anemia 2024-01-25 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001115378 SCV001273350 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.
Baylor Genetics RCV001115378 SCV001482547 uncertain significance Fanconi anemia complementation group A 2020-12-22 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Genetic Services Laboratory, University of Chicago RCV000120942 SCV002072319 uncertain significance not specified 2020-09-10 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCA gene demonstrated a sequence change, c.3583C>T, in exon 36 that results in an amino acid change, p.Arg1195Trp. This sequence change does not appear to have been previously described in patients with FANCA-related disorders and has described in the gnomAD database with a frequency of 0.4% in the Ashkenazi Jewish population (dbSNP rs143642304). The p.Arg1195Trp change affects a poorly conserved amino acid residue located in a domain of the FANCA protein that is not known to be functional. The p.Arg1195Trp substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Arg1195Trp change remains unknown at this time.
Sema4, Sema4 RCV000204450 SCV002535014 likely benign Fanconi anemia 2021-04-23 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV001115378 SCV004017558 likely benign Fanconi anemia complementation group A 2023-07-07 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV003407512 SCV004143594 likely benign not provided 2022-10-01 criteria provided, single submitter clinical testing FANCA: BP4, BS2
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003407512 SCV004218570 likely benign not provided 2023-06-08 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003407512 SCV004224280 uncertain significance not provided 2022-06-07 criteria provided, single submitter clinical testing
ITMI RCV000120942 SCV000085110 not provided not specified 2013-09-19 no assertion provided reference population

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