ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.710C>T (p.Ser237Leu) (rs730881715)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160476 SCV000211041 uncertain significance not provided 2014-07-25 criteria provided, single submitter clinical testing This variant is denoted FANCC c.710C>T at the cDNA level, p.Ser237Leu (S237L) at the protein level, and results in the change of a Serine to a Leucine (TCA>TTA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Ser237Leu 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. Since Serine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Ser237Leu occurs at a position that is moderately conserved across species and is located in region of interaction GRP94 and Hsp70 (Gordon 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available information, it is unclear whether FANCC Ser237Leu is pathogenic or benign. We consider it to be a variant of uncertain significance.

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