ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.10787_10788del (p.Val3596fs)

dbSNP: rs1218465638
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672092 SCV000797157 pathogenic Alstrom syndrome 2018-01-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000672092 SCV001582492 pathogenic Alstrom syndrome 2023-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val3597Glufs*4) 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 (no rsID available, gnomAD 0.008%). This premature translational stop signal has been observed in individual(s) with Alström syndrome (PMID: 17594715). ClinVar contains an entry for this variant (Variation ID: 556135). For these reasons, this variant has been classified as Pathogenic.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV000672092 SCV003807970 pathogenic Alstrom syndrome 2022-06-30 criteria provided, single submitter clinical testing ACMG classification criteria: PVS1 very strong, PS4 moderated, PM2 moderated, PM3 supporting
Ambry Genetics RCV003380668 SCV004096699 pathogenic Cardiovascular phenotype 2023-07-17 criteria provided, single submitter clinical testing The c.10790_10791delTG pathogenic mutation, located in coding exon 16 of the ALMS1 gene, results from a deletion of two nucleotides at nucleotide positions 10790 to 10791, causing a translational frameshift with a predicted alternate stop codon (p.V3597Efs*4). This variant has been detected in the homozygous state in individuals with Alström syndrome (Marshall JD et al. Hum Mutat, 2007 Nov;28:1114-23; Piñeiro-Gallego T et al. Mol Vis, 2012 Jul;18:1794-802). 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.
Natera, Inc. RCV000672092 SCV002078986 pathogenic Alstrom syndrome 2020-04-21 no assertion criteria provided clinical testing

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