ClinVar Miner

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

gnomAD frequency: 0.00066  dbSNP: rs202070666
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Total submissions: 4
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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 RCV002249451 SCV003658260 uncertain significance not specified 2024-09-02 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.
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
PreventionGenetics, part of Exact Sciences RCV003392576 SCV004120019 uncertain significance PLXNA3-related disorder 2024-06-10 no assertion criteria provided 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.

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