Submissions for variant NM_030928.4(CDT1):c.1411C>G (p.Pro471Ala)

gnomAD frequency: 0.00207  dbSNP: rs141663679

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194987	SCV000246945	uncertain significance	not specified	2015-06-02	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000954754	SCV001101410	benign	not provided	2024-01-25	criteria provided, single submitter	clinical testing
Institute of Human Genetics, University of Leipzig Medical Center	RCV001262500	SCV001440404	likely benign	Meier-Gorlin syndrome 4	2019-01-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000954754	SCV002498199	uncertain significance	not provided	2022-03-01	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002517061	SCV003702394	uncertain significance	Inborn genetic diseases	2022-04-08	criteria provided, single submitter	clinical testing	The c.1411C>G (p.P471A) alteration is located in exon 9 (coding exon 9) of the CDT1 gene. This alteration results from a C to G substitution at nucleotide position 1411, causing the proline (P) at amino acid position 471 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000954754	SCV001799117	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000954754	SCV001959947	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003917740	SCV004728541	likely benign	CDT1-related disorder	2022-02-23	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).