ClinVar Miner

Submissions for variant NM_018062.4(FANCL):c.963T>A (p.Asp321Glu)

gnomAD frequency: 0.00173  dbSNP: rs140088149
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000233098 SCV000290421 benign Fanconi anemia 2024-01-31 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001820756 SCV002071251 uncertain significance not specified 2020-04-24 criteria provided, single submitter clinical testing DNA sequence analysis of the FANCL gene demonstrated a sequence change, c.963T>A, in exon 12 that results in an amino acid change, p.Asp321Glu. This sequence change does not appear to have been previously described in patients with FANCL-related disorders and has been described in the gnomAD database with a population frequency of 0.54% in the African subpopulation; however, it has not been observed in homozygous state in any individuals (dbSNP rs140088149). The p.Asp321Glu change affects a highly conserved amino acid residue located in a domain of the FANCL protein that is not known to be functional. In-silico pathogenicity prediction tools (SIFT, PolyPhen2, Align GVGD, REVEL) provide contradictory results for the p.Asp321Glu substitution. Due to these contrasting evidences and the lack of functional studies, the clinical significance of the p.Asp321Glu change remains unknown at this time.
Sema4, Sema4 RCV000233098 SCV002527302 likely benign Fanconi anemia 2020-12-18 criteria provided, single submitter curation
KCCC/NGS Laboratory, Kuwait Cancer Control Center RCV003316291 SCV004015684 likely benign Fanconi anemia complementation group L 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003955361 SCV004776130 likely benign FANCL-related disorder 2021-06-23 no assertion criteria provided 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).

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