ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.7493A>T (p.Glu2498Val)

gnomAD frequency: 0.00002  dbSNP: rs1164499906
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526825 SCV000631801 uncertain significance Alstrom syndrome 2024-01-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 2499 of the ALMS1 protein (p.Glu2499Val). This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 459886). 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 RCV000526825 SCV002778709 uncertain significance Alstrom syndrome 2021-10-28 criteria provided, single submitter clinical testing
Natera, Inc. RCV000526825 SCV002082875 uncertain significance Alstrom syndrome 2020-10-05 no assertion criteria provided clinical testing

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