ClinVar Miner

Submissions for variant NM_017514.5(PLXNA3):c.172C>T (p.Pro58Ser)

gnomAD frequency: 0.00097  dbSNP: rs147019078
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000953409 SCV001099982 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV004029846 SCV003688596 uncertain significance not specified 2022-06-28 criteria provided, single submitter clinical testing The c.172C>T (p.P58S) alteration is located in exon 2 (coding exon 1) of the PLXNA3 gene. This alteration results from a C to T substitution at nucleotide position 172, causing the proline (P) at amino acid position 58 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV000953409 SCV005208051 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003960647 SCV004769698 likely benign PLXNA3-related disorder 2021-06-30 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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