Submissions for variant NM_006031.6(PCNT):c.533A>C (p.Gln178Pro)

dbSNP: rs200285580

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV001140290	SCV001300531	uncertain significance	Microcephalic osteodysplastic primordial dwarfism type II	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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics	RCV002559356	SCV003696518	uncertain significance	Inborn genetic diseases	2021-12-03	criteria provided, single submitter	clinical testing	The c.533A>C (p.Q178P) alteration is located in exon 3 (coding exon 3) of the PCNT gene. This alteration results from a A to C substitution at nucleotide position 533, causing the glutamine (Q) at amino acid position 178 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001729800	SCV001978667	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001729800	SCV001979780	likely benign	not provided		no assertion criteria provided	clinical testing