ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1014G>A (p.Lys338=) (rs780776360)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000485919 SCV000572233 uncertain significance not provided 2016-11-03 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1014G>A at the DNA level. This variant is silent at the coding level, preserving a Lysine at codon 338. In silico splicing models are inconsistent; therefore, in the absence of RNA or functional studies, the actual effect of this variant is unknown. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. FANCC c.1014G>A was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.The nucleotide which is altered, a guanine (G) at base 1014, is conserved across species. Based on currently available information, it is unclear whether FANCC c.1014G>A is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.

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