ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9262C>T (p.His3088Tyr)

dbSNP: rs1672978412
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001206023 SCV001377310 uncertain significance Alstrom syndrome 2019-08-23 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with ALMS1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces histidine with tyrosine at codon 3089 of the ALMS1 protein (p.His3089Tyr). The histidine residue is weakly conserved and there is a moderate physicochemical difference between histidine and tyrosine.
Natera, Inc. RCV001206023 SCV002078924 uncertain significance Alstrom syndrome 2021-09-30 no assertion criteria provided clinical testing

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