ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[19] (p.Glu23_Glu28dup) (rs55889738)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000250027 SCV000312402 likely benign not specified criteria provided, single submitter clinical testing
Invitae RCV000531962 SCV000631793 uncertain significance Alstrom syndrome 2019-09-19 criteria provided, single submitter clinical testing This sequence change inserts 15 nucleotides in exon 1 of the ALMS1 mRNA (c.63_77dup15). This leads to the insertion of five amino acid residue(s) in the ALMS1 protein (p.Glu25_Glu29dup) but otherwise preserves the integrity of the reading frame. 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. ClinVar contains an entry for this variant (Variation ID: 459877). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the duplicated amino acids is currently unknown. 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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000250027 SCV001339092 likely benign not specified 2020-03-02 criteria provided, single submitter clinical testing Variant summary: The variant in ALMS1, c.60_74dup15 (p.Glu24_Glu28dup) results in an in-frame duplication in a Glu repetitive region of the ALMS1 protein (Glu13_Glu28). The variant was absent in 83366 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.60_74dup15 in individuals affected with Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. Furthermore, there are no reports of other variants in this Glu repetitive region in the HGMD database. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation and classified the variant as benign. Oher duplication variants located in this Glu repetitive region (examples: p.Glu26_Glu28dup, p.Glu23_Glu24dup, p.Glu24dup) have been classified as benign by our laboratory. Based on the evidence outlined above, the variant was classified as likely benign.

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