ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.496C>G (p.Gln166Glu)

dbSNP: rs2103701341
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001990374 SCV002256018 uncertain significance Alstrom syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 167 of the ALMS1 protein (p.Gln167Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1465814). 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.
Fulgent Genetics, Fulgent Genetics RCV001990374 SCV002800838 uncertain significance Alstrom syndrome 2021-10-18 criteria provided, single submitter clinical testing

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