ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.149del (p.Ala50fs)

dbSNP: rs2104058704
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382727 SCV001581630 pathogenic Alstrom syndrome 2020-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala51Glyfs*19) in the ALMS1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ALMS1 are known to be pathogenic (PMID: 17594715). This variant has not been reported in the literature in individuals with ALMS1-related conditions.
Ambry Genetics RCV003382566 SCV004096693 pathogenic Cardiovascular phenotype 2023-07-07 criteria provided, single submitter clinical testing The c.152delC pathogenic mutation, located in coding exon 1 of the ALMS1 gene, results from a deletion of one nucleotide at nucleotide position 152, causing a translational frameshift with a predicted alternate stop codon (p.A51Gfs*19). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). 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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