ClinVar Miner

Submissions for variant NM_005032.7(PLS3):c.1497G>C (p.Trp499Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV003412537 SCV004801372 likely pathogenic Hernia, anterior diaphragmatic 2024-03-03 criteria provided, single submitter curation This variant is interpreted for Diaphragmatic hernia 5, X-linked. The following ACMG Tag(s) were applied: Absent from controls (or at extremely low frequency if recessive) in gnomAD (PM2). Well-established functional studies show a deleterious effect (PS3). Multiple lines of computational evidence support a deleterious effect on the gene or gene product (PP3).
OMIM RCV003412537 SCV004123124 pathogenic Hernia, anterior diaphragmatic 2023-11-15 no assertion criteria provided literature only

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