Submissions for variant NM_006031.6(PCNT):c.1995G>T (p.Glu665Asp)

gnomAD frequency: 0.00004  dbSNP: rs768518510

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000519239	SCV000617050	uncertain significance	not provided	2015-04-16	criteria provided, single submitter	clinical testing	A variant of unknown significance has been identified in the PCNT gene. The E665D variant has not been published as a pathogenic variant, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The E665D variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
PreventionGenetics, part of Exact Sciences	RCV003942706	SCV004759649	uncertain significance	PCNT-related condition	2023-12-20	criteria provided, single submitter	clinical testing	The PCNT c.1995G>T variant is predicted to result in the amino acid substitution p.Glu665Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0056% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.