ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[9] (p.Glu25_Glu29del) (rs55889738)

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Total submissions: 2
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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 RCV000487223 SCV000572505 likely benign not specified 2018-02-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.

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