Submissions for variant NM_000136.3(FANCC):c.967G>A (p.Val323Ile)

dbSNP: rs730881720

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000160483	SCV000211048	uncertain significance	not provided	2018-10-12	criteria provided, single submitter	clinical testing	This variant is denoted FANCC c.967G>A at the cDNA level, p.Val323Ile (V323I) at the protein level, and results in the change of a Valine to an Isoleucine (GTA>ATA). This variant has not, to our knowledge, been published in the literature as pathogenic or benign. FANCC Val323Ile 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 Valine and Isoleucine share similar properties, this is considered a conservative amino acid substitution. FANCC Val323Ile occurs at a position that is moderately conserved across species and is located in the Hsp70 interacting domain (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 Val323Ile is pathogenic or benign. We consider it to be a variant of uncertain significance.
Natera, Inc.	RCV001826861	SCV002081199	uncertain significance	Fanconi anemia	2021-01-24	no assertion criteria provided	clinical testing