ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7739A>G (p.Glu2580Gly)

dbSNP: rs2103889306
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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 RCV001985011 SCV002223490 uncertain significance Alstrom syndrome 2023-07-03 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1445383). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 2581 of the ALMS1 protein (p.Glu2581Gly).

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