ClinVar Miner

Submissions for variant NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)

gnomAD frequency: 0.00045  dbSNP: rs35110529
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539433 SCV000626466 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Mendelics RCV000987093 SCV001136291 likely benign Fanconi anemia complementation group A 2019-05-28 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001144633 SCV001305246 uncertain significance Fanconi anemia complementation group D2 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.
CeGaT Center for Human Genetics Tuebingen RCV001531560 SCV001746754 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
GeneDx RCV001531560 SCV002098210 uncertain significance not provided 2022-01-03 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Sema4, Sema4 RCV000539433 SCV002529473 likely benign Fanconi anemia 2021-06-19 criteria provided, single submitter curation
PreventionGenetics, part of Exact Sciences RCV003942731 SCV004761736 likely benign FANCD2-related disorder 2023-08-04 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Genetic Services Laboratory, University of Chicago RCV003151085 SCV003839514 uncertain significance not specified 2022-06-01 no assertion criteria provided clinical testing DNA sequence analysis of the FANCD2 gene demonstrated a sequence change, c.182C>T, in exon 3 that results in an amino acid change, p.Thr61Met. This sequence change does not appear to have been previously described in individuals with FANCD2-related disorders. This sequence change has been described in the gnomAD database with a frequency of 0.4% in the Ashkenazi Jewish subpopulation (dbSNP rs35110529). The p.Thr61Met change affects a poorly conserved amino acid residue located in a domain of the FANCD2 protein that is not known to be functional. The p.Thr61Met substitution appears to be benign using several in-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL). Due to insufficient evidences and the lack of functional studies, the clinical significance of the p.Thr61Met change remains unknown at this time.

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