ClinVar Miner

Submissions for variant NM_032242.4(PLXNA1):c.1549C>T (p.Gln517Ter)

gnomAD frequency: 0.00001  dbSNP: rs1204647586
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV001172463 SCV001241534 likely pathogenic Neurodevelopmental disorder 2019-11-30 no assertion criteria provided research
OMIM RCV002265938 SCV002547467 pathogenic Dworschak-Punetha neurodevelopmental syndrome 2022-07-13 no assertion criteria provided literature only
PreventionGenetics, part of Exact Sciences RCV004743286 SCV005346684 likely pathogenic PLXNA1-related disorder 2024-03-06 no assertion criteria provided clinical testing The PLXNA1 c.1549C>T variant is predicted to result in premature protein termination (p.Gln517*). This variant was reported in the compound heterozygous state in three siblings with Dworschak-Punetha neurodevelopmental syndrome; the father and an additional sibling carried this variant alone and were unaffected (Dworschak et al. 2021. PubMed ID: 34054129). This variant is reported in 0.0023% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/). Nonsense variants in PLXNA1 are expected to be pathogenic. This variant is interpreted as likely pathogenic for autosomal recessive disease.

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