ClinVar Miner

Submissions for variant NM_000135.4(FANCA):c.2316+9C>T

dbSNP: rs776301232
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000388326 SCV000399845 uncertain significance Fanconi anemia complementation group A 2018-01-13 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV001458727 SCV001662554 likely benign Fanconi anemia 2025-01-23 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV003151027 SCV003839502 uncertain significance not specified 2022-11-22 no assertion criteria provided clinical testing DNA sequence analysis of the FANCA gene demonstrated a sequence change in intron 25, c.2316+9C>T. This change does not appear to have been previously described in individuals with FANCA-related disorders and has also not been described in population databases such as ExAC and gnomAD (dbSNP rs776301232). This sequence change is not predicted to have a deleterious effect on splicing based on in-silico splice prediction programs. It is possible that this sequence change represents a benign sequence change in the FANCA gene that has not been identified to date. The functional significance of this sequence change is not known at present.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.