ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.36GGA[8] (p.Glu24_Glu28del) (rs55889738)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000233822 SCV000290095 uncertain significance Alstrom syndrome 2019-09-19 criteria provided, single submitter clinical testing This sequence change deletes 18 nucleotides from exon 1 of the ALMS1 mRNA (c.60_77del). This leads to the deletion of six amino acid residues in the ALMS1 protein (p.Glu24_Glu29del) 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: 241004). Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) 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.
GeneDx RCV001711640 SCV000572505 likely benign not provided 2021-03-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000487223 SCV001623160 uncertain significance not specified 2021-05-17 criteria provided, single submitter clinical testing Variant summary: ALMS1 c.57_74del18 (p.Glu23_Glu28del) results in an in-frame deletion that is predicted to remove six amino acids from the repeat region of encoded protein. 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.57_74del18 in individuals affected with Alstrom Syndrome With Dilated Cardiomyopathy and no experimental evidence demonstrating its impact on protein function have been reported. One co-occurrence with another pathogenic variant has been reported internally (MYBPC3 c.1227-13G>A), providing supporting evidence for a benign role. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as uncertain significance.

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