Submissions for variant NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr)

gnomAD frequency: 0.00733  dbSNP: rs33956783

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000147225	SCV000170921	benign	not specified	2014-02-04	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.
Genetic Services Laboratory, University of Chicago	RCV000147225	SCV000194592	benign	not specified	2013-02-08	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000625075	SCV000437098	likely benign	Microcephalic osteodysplastic primordial dwarfism type II	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000430424	SCV000511054	likely benign	not provided	2016-12-01	criteria provided, single submitter	clinical testing	Converted during submission to Likely benign.
Eurofins Ntd Llc (ga)	RCV000147225	SCV000702455	benign	not specified	2016-11-15	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000625075	SCV000743695	likely benign	Microcephalic osteodysplastic primordial dwarfism type II	2015-10-08	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000625075	SCV000745104	likely benign	Microcephalic osteodysplastic primordial dwarfism type II	2017-05-31	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000430424	SCV001099320	benign	not provided	2025-01-30	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000625075	SCV001159204	benign	Microcephalic osteodysplastic primordial dwarfism type II	2024-11-25	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000430424	SCV004152042	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	PCNT: BP4, BS1, BS2
Breakthrough Genomics, Breakthrough Genomics	RCV000430424	SCV005208866	likely benign	not provided		criteria provided, single submitter	not provided
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000430424	SCV001799126	likely benign	not provided		no assertion criteria provided	clinical testing