ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.545G>T (p.Arg182Leu)

dbSNP: rs104894086
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004700211 SCV005201954 pathogenic not provided 2024-10-17 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect on protein activity (PMID: 8948562); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 11061515, 26827627, 8948562, 32835366)
OMIM RCV000009551 SCV000029769 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2000-10-01 no assertion criteria provided literature only

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