ClinVar Miner

Submissions for variant NM_017514.5(PLXNA3):c.1623G>C (p.Gln541His)

gnomAD frequency: 0.00004  dbSNP: rs782515431
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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 RCV004027117 SCV003539312 uncertain significance not specified 2022-08-08 criteria provided, single submitter clinical testing The c.1623G>C (p.Q541H) alteration is located in exon 7 (coding exon 6) of the PLXNA3 gene. This alteration results from a G to C substitution at nucleotide position 1623, causing the glutamine (Q) at amino acid position 541 to be replaced by a histidine (H). 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 RCV000736200 SCV000864497 likely pathogenic Short stature 2001-11-18 no assertion criteria provided case-control

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