Submissions for variant NM_006031.6(PCNT):c.1084C>T (p.Arg362Cys)

gnomAD frequency: 0.00001  dbSNP: rs777707751

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000356467	SCV000333282	uncertain significance	not provided	2015-08-19	criteria provided, single submitter	clinical testing
Invitae	RCV000356467	SCV002181231	uncertain significance	not provided	2022-08-08	criteria provided, single submitter	clinical testing	This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 362 of the PCNT protein (p.Arg362Cys). This variant is present in population databases (rs777707751, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with PCNT-related conditions. ClinVar contains an entry for this variant (Variation ID: 282085). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
PreventionGenetics, part of Exact Sciences	RCV003417885	SCV004116715	uncertain significance	PCNT-related condition	2023-12-20	criteria provided, single submitter	clinical testing	The PCNT c.1084C>T variant is predicted to result in the amino acid substitution p.Arg362Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
CeGaT Center for Human Genetics Tuebingen	RCV000356467	SCV004152013	uncertain significance	not provided	2022-07-01	criteria provided, single submitter	clinical testing