ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.144G>A (p.Trp48Ter)

dbSNP: rs749415045
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387587 SCV001588256 pathogenic not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp48*) 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 variant has not been reported in the literature in individuals affected with STAR-related conditions. ClinVar contains an entry for this variant (Variation ID: 1074325). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005040261 SCV005680191 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2024-05-31 criteria provided, single submitter clinical testing

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