ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.577C>T (p.Arg193Ter)

gnomAD frequency: 0.00001  dbSNP: rs387907235
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000029206 SCV000789897 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV001852577 SCV002247481 pathogenic not provided 2022-01-06 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 35553). For these reasons, this variant has been classified as Pathogenic. This premature translational stop signal has been observed in individual(s) with clinical features of congenital lipoid adrenal hyperplasia (PMID: 8948562, 28637490). This variant is present in population databases (rs387907235, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg193*) in the STAR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in STAR are known to be pathogenic (PMID: 8948562).
Fulgent Genetics, Fulgent Genetics RCV000029206 SCV002811083 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2021-07-01 criteria provided, single submitter clinical testing
OMIM RCV000029206 SCV000051852 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 1995-03-24 no assertion criteria provided literature only

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