ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11110_11128del (p.Gly3704fs)

dbSNP: rs2104106546
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV002251053 SCV002521422 pathogenic Alstrom syndrome 2022-05-22 criteria provided, single submitter clinical testing The variant is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.002%). Frameshift: predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported at least twice as pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000092191 / PMID: 26047050). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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