ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.8031C>A (p.Asp2677Glu)

gnomAD frequency: 0.00001  dbSNP: rs754078506
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665141 SCV000789209 uncertain significance Alstrom syndrome 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000665141 SCV002289453 uncertain significance Alstrom syndrome 2022-10-25 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 2678 of the ALMS1 protein (p.Asp2678Glu). This variant is present in population databases (rs754078506, gnomAD 0.005%). 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: 550406). 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 RCV000665141 SCV002775107 uncertain significance Alstrom syndrome 2021-11-30 criteria provided, single submitter clinical testing

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