ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup) (rs756301830)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001245733 SCV001419038 uncertain significance Alstrom syndrome 2019-03-20 criteria provided, single submitter clinical testing This variant, c.71_72insAGAGGA, results in the duplication of two amino acid to the ALMS1 protein (p.Glu28_Glu29dup), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with ALMS1-related conditions. 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.
Clinical Genetics,Academic Medical Center RCV001700724 SCV001919740 benign not specified no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001727848 SCV001968778 likely benign not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001727848 SCV001977817 likely benign not provided no assertion criteria provided clinical testing

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