ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.69_70insAAG (p.Glu24_Glu25insLys) (rs1006328829)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666373 SCV000790653 uncertain significance Alstrom syndrome 2017-03-31 criteria provided, single submitter clinical testing
Invitae RCV000666373 SCV000831784 uncertain significance Alstrom syndrome 2018-07-02 criteria provided, single submitter clinical testing This variant, c.72_73insAAG, results in the insertion of one amino acid to the ALMS1 protein (p.Glu24_Glu25insLys), but otherwise preserves the integrity of the reading frame. While this variant is not present in population databases, 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the inserted amino acid 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.
Gharavi Laboratory,Columbia University RCV000722828 SCV000853959 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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