ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1444_1446del (p.Pro482del) (rs773270231)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480099 SCV000571381 uncertain significance not provided 2016-08-16 criteria provided, single submitter clinical testing This in-frame deletion of 3 nucleotides in FANCC is denoted c.1444_1446delCCT at the cDNA level and p.Pro482del (P482del) at the protein level. The normal sequence, with the bases that are deleted in brackets, is AGCT[delCCT]GCAC. This deletion of a single Proline residue occurs at a position that is not conserved and is not located in a known functional domain (Gordon 2000). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. Since in-frame deletions may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider FANCC Pro482del to be a variant of uncertain significance.

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