Submissions for variant NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)

gnomAD frequency: 0.00066  dbSNP: rs202070666

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Mendelics	RCV002249451	SCV002518921	benign	not specified	2022-05-04	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002533768	SCV003658260	uncertain significance	Inborn genetic diseases	2022-07-14	criteria provided, single submitter	clinical testing	The c.56G>A (p.G19D) alteration is located in exon 2 (coding exon 1) of the PLXNA3 gene. This alteration results from a G to A substitution at nucleotide position 56, causing the glycine (G) at amino acid position 19 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences	RCV003392576	SCV004120019	uncertain significance	PLXNA3-related condition	2023-12-07	criteria provided, single submitter	clinical testing	The PLXNA3 c.56G>A variant is predicted to result in the amino acid substitution p.Gly19Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.039% of alleles in individuals of European (Non-Finnish) descent in gnomAD, including 16 hemizygous individuals. Although we suspect this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg	RCV000736201	SCV000864498	likely pathogenic	Short stature	2001-11-18	no assertion criteria provided	case-control