Submissions for variant NM_016343.4(CENPF):c.6830G>C (p.Gly2277Ala)

gnomAD frequency: 0.00094  dbSNP: rs147776688

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000917535	SCV001062816	likely benign	not provided	2024-05-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002540925	SCV003754783	uncertain significance	Inborn genetic diseases	2024-07-02	criteria provided, single submitter	clinical testing	The c.6830G>C (p.G2277A) alteration is located in exon 13 (coding exon 12) of the CENPF gene. This alteration results from a G to C substitution at nucleotide position 6830, causing the glycine (G) at amino acid position 2277 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005359662	SCV005912943	uncertain significance	Stromme syndrome	2021-07-30	criteria provided, single submitter	research
PreventionGenetics, part of Exact Sciences	RCV003970449	SCV004779544	likely benign	CENPF-related disorder	2022-02-09	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).