ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11313_11316del (p.Glu3772fs) (rs747272625)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665643 SCV000789796 pathogenic Alstrom syndrome 2017-03-16 criteria provided, single submitter clinical testing
Invitae RCV000665643 SCV000832686 pathogenic Alstrom syndrome 2020-08-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu3773Trpfs*18) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs747272625, ExAC 0.003%). This variant has been observed in several individuals affected with Alstrom syndrome (PMID: 17594715). Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). For these reasons, this variant has been classified as Pathogenic.
MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP RCV000665643 SCV001426410 pathogenic Alstrom syndrome 2020-08-04 criteria provided, single submitter clinical testing The p.(Glu3771Trpfs*18) variant has been reported in association with Alstrom syndrome (Marshall 2015). It is a null variant in a gene where loss-of-funcion is a known mechanism of disease. It has been found at extremely low frequency in GnomAD. The variant has been detected in trans with a pathogenic variant, the p.(Thr399Lysfs*11). In summary, the p.(Glu3771Trpfs*18) variant meets the ACMG Guidelines (Richards 2015) criteria to be classified as pathogenic (PVS1, PM2, PM3 and PP5).

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