ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.283C>T (p.Gln95Ter)

gnomAD frequency: 0.00001  dbSNP: rs750326619
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672767 SCV000797905 likely pathogenic Alstrom syndrome 2018-02-14 criteria provided, single submitter clinical testing
Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University RCV000672767 SCV001142508 pathogenic Alstrom syndrome 2019-11-01 criteria provided, single submitter clinical testing
Invitae RCV000672767 SCV002138718 pathogenic Alstrom syndrome 2022-12-23 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: 556723). This premature translational stop signal has been observed in individual(s) with ALMS1-related conditions (PMID: 32973878). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (rs750326619, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln96*) 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).
Ambry Genetics RCV003163069 SCV003912788 pathogenic Cardiovascular phenotype 2023-03-08 criteria provided, single submitter clinical testing The p.Q96* pathogenic mutation (also known as c.286C>T), located in coding exon 1 of the ALMS1 gene, results from a C to T substitution at nucleotide position 286. This changes the amino acid from a glutamine to a stop codon within coding exon 1. This alteration has been reported as a compound heterozygote in a subject with central vision loss, hearing loss and cardiomyopathy (Mauring L et al. Front Genet, 2020 Aug;11:938). 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.

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