ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.839C>T (p.Ser280Leu) (rs749230615)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484866 SCV000564976 uncertain significance not provided 2017-06-29 criteria provided, single submitter clinical testing This variant is denoted FANCC c.839C>T at the cDNA level, p.Ser280Leu (S280L) at the protein level, and results in the change of a Serine to a Leucine (TCG>TTG). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Ser280Leu was observed at an allele frequency of 0.03% (3/8,640) in individuals of East Asian ancestry in large population cohorts (NHLBI Exome Sequencing Project, The 1000 Genomes Consortium 2015, Lek 2016). Since Serine and Leucine differ in polarity, charge, size or other properties, this is considered a non-conservative amino acid substitution. FANCC Ser280Leu occurs at a position that is not conserved and is located within the Hsp70 and GRP94 binding domains (Gordon 2000). In silico analyses predict that this variant is unlikely to alter protein structure or function. Based on currently available evidence, it is unclear whether FANCC Ser280Leu is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Mendelics RCV000709087 SCV000838350 uncertain significance Fanconi anemia, complementation group C 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000988211 SCV001137848 uncertain significance Fanconi anemia, complementation group A 2019-05-28 criteria provided, single submitter clinical testing

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