ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.2752dup (p.Ser918fs)

dbSNP: rs1230351650
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674003 SCV000799272 likely pathogenic Alstrom syndrome 2018-04-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV002440414 SCV002749019 pathogenic Cardiovascular phenotype 2020-05-08 criteria provided, single submitter clinical testing The c.2755dupT variant, located in coding exon 8 of the ALMS1 gene, results from a duplication of T at nucleotide position 2755, causing a translational frameshift with a predicted alternate stop codon (p.S919Ffs*12). 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV000674003 SCV004380221 pathogenic Alstrom syndrome 2022-12-17 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: 557817). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser919Phefs*12) 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).

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