ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3881G>C (p.Ser1294Thr) (rs373835067)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634778 SCV000756121 uncertain significance Alstrom syndrome 2017-11-03 criteria provided, single submitter clinical testing This sequence change replaces serine with threonine at codon 1295 of the ALMS1 protein (p.Ser1295Thr). The serine residue is moderately conserved and there is a small physicochemical difference between serine and threonine. This variant is present in population databases (rs373835067, ExAC 0.009%). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825870 SCV000967355 uncertain significance not specified 2019-02-26 criteria provided, single submitter clinical testing The p.Ser1295Thr variant in ALMS1 has not been previously reported in individuals with Alstrom syndrome, but has been identified in 0.005% (2/34500) of Latino chromosomes by gnomAD ( This variant has also been reported in ClinVar (Variation ID: 529370). Computational prediction tools and conservation analysis suggest that this variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Ser1295Thr variant is uncertain. ACMG/AMP Criteria applied: PM2, BP4.
GeneDx RCV001591413 SCV001826802 uncertain significance not provided 2020-03-04 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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