Submissions for variant NM_006031.6(PCNT):c.6819G>A (p.Gly2273=)

gnomAD frequency: 0.00018  dbSNP: rs200610141

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000194941	SCV000248486	uncertain significance	not specified	2015-06-01	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001000787	SCV000437058	uncertain significance	Microcephalic osteodysplastic primordial dwarfism type II	2018-01-12	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV001000787	SCV001157845	likely benign	Microcephalic osteodysplastic primordial dwarfism type II	2019-01-11	criteria provided, single submitter	clinical testing
Invitae	RCV002517965	SCV003287785	likely benign	not provided	2023-12-29	criteria provided, single submitter	clinical testing