ClinVar Miner

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

dbSNP: rs747272625
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Total submissions: 6
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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 2023-12-21 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. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant is present in population databases (rs747272625, gnomAD 0.005%). This premature translational stop signal has been observed in individuals with Alstrom syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 550797). 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).
Fulgent Genetics, Fulgent Genetics RCV000665643 SCV002816872 pathogenic Alstrom syndrome 2021-08-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530660 SCV003550063 pathogenic Inborn genetic diseases 2022-03-15 criteria provided, single submitter clinical testing The c.11316_11319delAGAG (p.E3773Wfs*18) alteration, located in exon 16 (coding exon 16) of the ALMS1 gene, consists of a deletion of 4 nucleotides from position 11316 to 11319, causing a translational frameshift with a predicted alternate stop codon after 18 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, this alteration has an overall frequency of <0.01% (6/247766) total alleles studied. The highest observed frequency was 0.01% (6/112268) of European (non-Finnish) alleles. This alteration has been reported homozygous or compound heterozygous in multiple unrelated patients with Alstrom syndrome (Marshall, 2007). Based on the available evidence, this alteration is classified as pathogenic.
Natera, Inc. RCV000665643 SCV002079005 pathogenic Alstrom syndrome 2020-08-27 no assertion criteria provided clinical testing

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