ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7762C>T (p.Arg2588Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002664242 SCV003524691 uncertain significance Alstrom syndrome 2022-07-19 criteria provided, single submitter clinical testing This missense change has been observed in individual(s) with Almstrom syndrome (PMID: 17594715). This variant is present in population databases (rs45544032, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 2589 of the ALMS1 protein (p.Arg2589Trp). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant 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.

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