ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11310_11313del (p.Asp3770fs)

dbSNP: rs780252175
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001255905 SCV001587243 pathogenic Alstrom syndrome 2022-08-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 977958). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 17594715). This variant is present in population databases (rs780252175, gnomAD 0.005%). This sequence change creates a premature translational stop signal (p.Asp3771Glufs*20) 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).
Institute of Human Genetics, University of Leipzig Medical Center RCV001255905 SCV001950025 pathogenic Alstrom syndrome 2021-07-26 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous with NM_015120.4:c.8656C>T.
Ambry Genetics RCV003382492 SCV004088634 pathogenic Cardiovascular phenotype 2023-09-22 criteria provided, single submitter clinical testing The c.11313_11316delTAGA pathogenic mutation, located in coding exon 16 of the ALMS1 gene, results from a deletion of 4 nucleotides at nucleotide positions 11313 to 11316, causing a translational frameshift with a predicted alternate stop codon (p.D3771Efs*20). This alteration has been reported in association with Alstrom syndrome Marshall JD et al. Hum Mutat, 2007 Nov;28:1114-23; Corbetti F et al. Int J Cardiol, 2013 Aug;167:1257-63; Citton V et al. J Neuroradiol, 2016 Jun;43:195-9; Han JC et al. J Clin Endocrinol Metab, 2018 Jul;103:2707-2719). This alteration was also reported in a 22 month old subject with macular degeneration (Gatticchi L et al. BMC Med Genet, 2020 Sep;21:173). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Laboratory of Genetics in Ophthalmology, Institut Imagine RCV001255905 SCV001432508 pathogenic Alstrom syndrome no assertion criteria provided research
Natera, Inc. RCV001255905 SCV002079004 pathogenic Alstrom syndrome 2021-03-30 no assertion criteria provided clinical testing

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