ClinVar Miner

Submissions for variant NM_000349.3(STAR):c.135del (p.Ser46fs)

dbSNP: rs193922393
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000030462 SCV000053132 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Counsyl RCV000030462 SCV000798635 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2018-03-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000792849 SCV000932173 pathogenic not provided 2025-01-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser46Alafs*63) 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: 9141542). ClinVar contains an entry for this variant (Variation ID: 36782). For these reasons, this variant has been classified as Pathogenic.
Neuberg Centre For Genomic Medicine, NCGM RCV000030462 SCV005073839 likely pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency criteria provided, single submitter clinical testing The frame shift c.135del (p.Ser46AlafsTer63) variant in STAR gene has been submitted to ClinVar as Pathogenic. The variant p.Ser46AlafsTer63 is absent in gnomAD and 1000 Genomes. This variant has been reported to the ClinVar database as Pathogenic/Likely_pathogenic. This variant causes a frameshift starting with codon Serine 46, changes this amino acid to Alanine residue, and creates a premature Stop codon at position 63 of the new reading frame, denoted p.Ser46AlafsTer63. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. Functional studies are required to prove the pathogenicity for the variant, for these reasons, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000030462 SCV005680194 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 2024-01-24 criteria provided, single submitter clinical testing
OMIM RCV000030462 SCV000029770 pathogenic Congenital lipoid adrenal hyperplasia due to STAR deficency 1997-05-01 no assertion criteria provided literature only

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