Submissions for variant NM_006031.6(PCNT):c.4838C>T (p.Ala1613Val)

gnomAD frequency: 0.00009  dbSNP: rs546562229

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000321091	SCV000437004	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.
Genetic Services Laboratory, University of Chicago	RCV000504309	SCV000596370	uncertain significance	not specified	2015-08-14	criteria provided, single submitter	clinical testing
Invitae	RCV002057786	SCV002488114	likely benign	not provided	2024-01-14	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003932369	SCV004747546	likely benign	PCNT-related condition	2022-02-10	criteria provided, single submitter	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).