ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[20] (p.Glu24_Glu29dup) (rs55889738)

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Total submissions: 2
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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 2018-09-24 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.

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