ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.3884G>C (p.Ser1295Thr) (rs373835067)

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Total submissions: 2
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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 individual s with Alstrom syndrome, but has been identified in 0.005% (2/34500) of Latino c hromosomes by gnomAD (http://gnomad.broadinstitute.org). This variant has also b een reported in ClinVar (Variation ID: 529370). Computational prediction tools a nd conservation analysis suggest that this variant may not impact the protein, t hough this information is not predictive enough to rule out pathogenicity. In su mmary, the clinical significance of the p.Ser1295Thr variant is uncertain. ACMG/ AMP Criteria applied: PM2, BP4.

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