ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.91GCG[7] (p.Ala34_Ala35dup) (rs746896173)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459727 SCV000541352 uncertain significance Alstrom syndrome 2019-08-04 criteria provided, single submitter clinical testing This sequence change inserts 6 nucleotides in exon 1 of the ALMS1 mRNA (c.108_109insGCGGCG). This leads to the insertion of 2 amino acid residues in the ALMS1 protein (p.Ala35_Ala36dup). The additional amino acid residues extend a 7 alanine repeat region of the ALMS1 protein, but otherwise preserves the integrity of the reading frame. While this variant is present in population databases (rs746896173), 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 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 RCV001696869 SCV000722179 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Counsyl RCV000459727 SCV000789818 uncertain significance Alstrom syndrome 2017-02-22 criteria provided, single submitter clinical testing

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