Submissions for variant NM_001378030.1(CCDC78):c.1275G>A (p.Gln425=)

gnomAD frequency: 0.00014  dbSNP: rs760280521

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000546211	SCV000652736	likely benign	Congenital myopathy with internal nuclei and atypical cores	2025-01-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV004024230	SCV004919052	uncertain significance	Inborn genetic diseases	2024-03-07	criteria provided, single submitter	clinical testing	The c.1271G>A (p.R424K) alteration is located in exon 13 (coding exon 13) of the CCDC78 gene. This alteration results from a G to A substitution at nucleotide position 1271, causing the arginine (R) at amino acid position 424 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics	RCV004704089	SCV005216349	likely benign	not provided		criteria provided, single submitter	not provided
PreventionGenetics, part of Exact Sciences	RCV003945300	SCV004758313	likely benign	CCDC78-related disorder	2023-12-08	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).