ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.1063G>C (p.Asp355His) (rs587778325)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000766565 SCV000567785 uncertain significance not provided 2018-07-06 criteria provided, single submitter clinical testing This variant is denoted FANCC c.1063G>C at the cDNA level, p.Asp355His (D355H) at the protein level, and results in the change of an Aspartic Acid to a Histidine (GAC>CAC). This variant was identified in 1/331 healthy European individuals undergoing whole genome sequencing (Bodian 2014); of note, the participants in this study were younger than 50 years old, thus the unaffected status of this individual may not be significant. FANCC Asp355His was not observed at a significant allele frequency in large population cohorts (Lek 2016). This variant is located in the Hsp70 binding domain (Gordon & Buchwald 2000). In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether FANCC Asp355His is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
ITMI RCV000120968 SCV000085136 not provided not specified 2013-09-19 no assertion provided reference population

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