Submissions for variant NM_032242.4(PLXNA1):c.3314G>A (p.Arg1105His)

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV002966946	SCV003282105	uncertain significance	not provided	2022-08-20	criteria provided, single submitter	clinical testing	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. 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. This variant has not been reported in the literature in individuals affected with PLXNA1-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1105 of the PLXNA1 protein (p.Arg1105His).
PreventionGenetics, part of Exact Sciences	RCV004744506	SCV005356924	uncertain significance	PLXNA1-related disorder	2024-05-31	no assertion criteria provided	clinical testing	The PLXNA1 c.3314G>A variant is predicted to result in the amino acid substitution p.Arg1105His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0018% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.