ClinVar Miner

Submissions for variant NM_015120.4(ALMS1):c.106_108dup (p.Ala36_Asn37insAla) (rs746896173)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000306753 SCV000431903 uncertain significance Alstrom syndrome 2016-06-14 criteria provided, single submitter clinical testing
Counsyl RCV000306753 SCV000790044 uncertain significance Alstrom syndrome 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV000306753 SCV000825364 uncertain significance Alstrom syndrome 2019-11-19 criteria provided, single submitter clinical testing This variant, c.108_109insGCG, results in the insertion of 1 amino acid to the ALMS1 protein (p.Ala36dup), 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 duplicated 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.
GeneDx RCV001590984 SCV001824947 likely benign not provided 2020-04-07 criteria provided, single submitter clinical testing

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