ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.36_38GGA[11] (p.Glu27_Glu29del) (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 RCV000460595 SCV000541335 uncertain significance Alstrom syndrome 2019-11-27 criteria provided, single submitter clinical testing This variant, c.66_77del, results in the deletion of 4 amino acids of the ALMS1 protein (p.Glu26_Glu29del), but otherwise preserves the integrity of the reading frame. While this variant is present in population databases (rs762436798), the frequency information is unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 403930). 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.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000596710 SCV000705440 likely benign not specified 2017-02-15 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000596710 SCV000864079 likely benign not specified 2017-06-27 criteria provided, single submitter clinical testing

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