ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.229C>T (p.Gln77Ter)

gnomAD frequency: 0.00001  dbSNP: rs781281145
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669222 SCV000793953 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2017-09-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001388089 SCV001588936 pathogenic not provided 2024-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln77*) 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 present in population databases (rs781281145, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with congenital lipoid adrenal hyperplasia (PMID: 15347444, 30400872). ClinVar contains an entry for this variant (Variation ID: 553713). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000669222 SCV002786034 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2022-04-19 criteria provided, single submitter clinical testing
Natera, Inc. RCV000669222 SCV002083264 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2020-07-18 no assertion criteria provided clinical testing

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