ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3295C>T (p.Gln1099Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Igenomix - Part of Vitrolife Group, Igenomix RCV004691661 SCV005187264 likely pathogenic Alstrom syndrome criteria provided, single submitter clinical testing ALMS1 variant (NM_001378454.1:c.3295C>T, p.Gln1099Ter) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense-mediated decay, which is commonly known mechanisms for disease (PVS1). Truncations downstream of this position have been classified as pathogenic. This variant is absent in the gnomAD v4.1.0 (PM2). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Based on the evidence outlined above, the variant was classified as likely pathogenic. This variant was detected in the heterozygous state through carrier screening.

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