Submissions for variant NM_018451.5(CPAP):c.2462C>T (p.Thr821Met)

gnomAD frequency: 0.00056  dbSNP: rs144938364

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000023763	SCV000192660	uncertain significance	Microcephaly 6, primary, autosomal recessive	2013-02-08	criteria provided, single submitter	clinical testing
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center	RCV000023763	SCV000267246	uncertain significance	Microcephaly 6, primary, autosomal recessive	2016-03-18	criteria provided, single submitter	reference population
Eurofins Ntd Llc (ga)	RCV000597472	SCV000704901	likely benign	not specified	2017-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000597472	SCV000730492	likely benign	not specified	2018-01-12	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000885649	SCV001029111	benign	not provided	2023-12-17	criteria provided, single submitter	clinical testing
Mendelics	RCV000988967	SCV001138920	benign	Seckel syndrome 1	2023-08-22	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001110892	SCV001268379	uncertain significance	Seckel syndrome 4	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina	RCV000023763	SCV001268380	uncertain significance	Microcephaly 6, primary, autosomal recessive	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
OMIM	RCV000023763	SCV000045054	pathogenic	Microcephaly 6, primary, autosomal recessive	2010-12-01	no assertion criteria provided	literature only
PreventionGenetics, part of Exact Sciences	RCV004541015	SCV004788051	likely benign	CENPJ-related disorder	2023-06-08	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).