ClinVar Miner

Submissions for variant NM_000136.3(FANCC):c.938C>T (p.Ala313Val)

dbSNP: rs730881712
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000160471 SCV000211036 uncertain significance not provided 2014-10-09 criteria provided, single submitter clinical testing This variant is denoted FANCC c.938C>T at the cDNA level, p.Ala313Val (A313V) at the protein level, and results in the change of an Alanine to a Valine (GCC>GTC). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Ala313Val 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 Alanine and Valine share similar properties, this is considered a conservative amino acid substitution. FANCC Ala313Val occurs at a position that is moderately conserved among mammals and is located within the Hsp70 interacting domain (Gordon and Buchwald). In silico analyses are inconsistent regarding the effect this variant may have on protein structure and function. Based on currently available information, it is unclear whether FANCC Ala313Val is pathogenic or benign. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV003162677 SCV003856299 uncertain significance Hereditary cancer-predisposing syndrome 2022-11-23 criteria provided, single submitter clinical testing The p.A313V variant (also known as c.938C>T), located in coding exon 9 of the FANCC gene, results from a C to T substitution at nucleotide position 938. The alanine at codon 313 is replaced by valine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826859 SCV002081201 uncertain significance Fanconi anemia 2021-05-14 no assertion criteria provided clinical testing

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