ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.354A>G (p.Gln118=)

dbSNP: rs531782624
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000634791 SCV000756134 uncertain significance Alstrom syndrome 2017-12-24 criteria provided, single submitter clinical testing This sequence change affects codon 119 of the ALMS1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ALMS1 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with ALMS1-related disease. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Stanford Center for Inherited Cardiovascular Disease, Stanford University RCV000786091 SCV000924726 uncertain significance not provided 2018-02-05 no assertion criteria provided provider interpretation
Natera, Inc. RCV000634791 SCV001457866 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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