ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)

dbSNP: rs773270231
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480099 SCV000571381 uncertain significance not provided 2022-12-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In-frame deletion of 1 amino acid in a non-repeat region; In silico analysis supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV001011612 SCV001171954 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-19 criteria provided, single submitter clinical testing The c.1444_1446delCCT variant (also known as p.P482del) is located in coding exon 13 of the FANCC gene. This variant results from an in-frame CCT deletion at nucleotide positions 1444 to 1446. This results in the in-frame deletion of a proline at codon 482. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be neutral by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV001865464 SCV002255590 uncertain significance Fanconi anemia 2022-04-25 criteria provided, single submitter clinical testing This variant, c.1444_1446del, results in the deletion of 1 amino acid(s) of the FANCC protein (p.Pro482del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs773270231, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with FANCC-related conditions. ClinVar contains an entry for this variant (Variation ID: 422023). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Natera, Inc. RCV001273977 SCV001457638 uncertain significance Fanconi anemia complementation group C 2020-09-16 no assertion criteria provided clinical testing

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