ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.178+1G>C

dbSNP: rs1554503011
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673860 SCV000799110 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2018-04-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000673860 SCV002796277 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2022-01-14 criteria provided, single submitter clinical testing
Invitae RCV003558526 SCV004294600 likely pathogenic not provided 2023-11-11 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the STAR gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in STAR are known to be pathogenic (PMID: 8948562). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with congenital adrenal hyperplasia (PMID: 22083155). ClinVar contains an entry for this variant (Variation ID: 557688). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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