ClinVar Miner

Submissions for variant NM_004176.5(SREBF1):c.1579C>T (p.Arg527Cys)

dbSNP: rs2033690347
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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001586039 SCV001810943 pathogenic not provided 2022-06-08 criteria provided, single submitter clinical testing Published functional studies demonstrate a damaging effect (impairment of S1P cleavage and prohibition of nuclear translocation of the transciptionally active form of SREBP1) (Wang et al., 2020); Not observed in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 32902915, 33253727, 31790666, 32497488)
Laboratoire de Génétique Moléculaire, CHU Bordeaux RCV001586039 SCV002568858 pathogenic not provided criteria provided, single submitter clinical testing
3billion, Medical Genetics RCV001260974 SCV003841795 pathogenic Hereditary mucoepithelial dysplasia 2023-02-23 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Same nucleotide change resulting in same amino acid change (ClinVar ID: VCV000932243 / PMID: 31790666) and a different missense change at the same codon (p.Arg527His / ClinVar ID: VCV000981495 / PMID: 31790666) have been previously reported to be associated with SREBF1 related disorder. The variant has been previously reported as de novo in a similarly affected individual (PMID: 31790666). The variant has been observed in multiple (>3) similarly affected unrelated individuals (PMID: 31790666, 32497488, 32902915, 33253727). The variant has been reported to co-segregate with the disease in at least 3 similarly affected relatives/individuals in the same family or similarly affected unrelated families (PMID: 32497488). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline.
Baylor Genetics RCV001255643 SCV004040680 pathogenic IFAP syndrome 2 2023-06-14 criteria provided, single submitter clinical testing
Baylor Genetics RCV001260974 SCV004041007 pathogenic Hereditary mucoepithelial dysplasia 2023-06-14 criteria provided, single submitter clinical testing
Clinical Genetics Laboratory of Dermatology, Peking University First Hospital RCV001263099 SCV001245404 pathogenic IFAP syndrome 1, with or without BRESHECK syndrome no assertion criteria provided research
OMIM RCV001255643 SCV001432204 pathogenic IFAP syndrome 2 2020-09-09 no assertion criteria provided literature only
OMIM RCV001260974 SCV001438345 pathogenic Hereditary mucoepithelial dysplasia 2021-02-03 no assertion criteria provided literature only

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