ClinVar Miner

Submissions for variant NM_017514.5(PLXNA3):c.4808G>A (p.Arg1603His)

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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 RCV004837893 SCV005469797 uncertain significance not specified 2024-07-31 criteria provided, single submitter clinical testing The c.4808G>A (p.R1603H) alteration is located in exon 29 (coding exon 28) of the PLXNA3 gene. This alteration results from a G to A substitution at nucleotide position 4808, causing the arginine (R) at amino acid position 1603 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003410777 SCV004113568 likely benign PLXNA3-related disorder 2024-05-15 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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