ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.201_202del (p.Tyr68fs)

dbSNP: rs1563268652
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713525 SCV000844147 pathogenic not provided 2018-07-24 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000713525 SCV001501457 pathogenic not provided 2020-10-01 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000009561 SCV002021969 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2020-09-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713525 SCV002233140 pathogenic not provided 2023-07-31 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 586680). This sequence change creates a premature translational stop signal (p.Tyr68Glnfs*2) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with congenital lipoid adrenal hyperplasia (PMID: 17666473, 18058976).
Fulgent Genetics, Fulgent Genetics RCV000009561 SCV002816130 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2024-02-18 criteria provided, single submitter clinical testing
OMIM RCV000009561 SCV000029779 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2007-10-01 no assertion criteria provided literature only
Natera, Inc. RCV000009561 SCV002083266 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2020-12-08 no assertion criteria provided clinical testing

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