ClinVar Miner

Submissions for variant NM_017514.5(PLXNA3):c.5599G>A (p.Val1867Met)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004662286 SCV005147418 uncertain significance not specified 2024-05-29 criteria provided, single submitter clinical testing The c.5599G>A (p.V1867M) alteration is located in exon 33 (coding exon 32) of the PLXNA3 gene. This alteration results from a G to A substitution at nucleotide position 5599, causing the valine (V) at amino acid position 1867 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV004741788 SCV005365068 likely benign PLXNA3-related disorder 2024-05-02 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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