ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9423C>G (p.Asp3141Glu)

dbSNP: rs1486652095
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000802748 SCV000942591 uncertain significance Alstrom syndrome 2022-03-01 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 3142 of the ALMS1 protein (p.Asp3142Glu). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 648097). 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.
Natera, Inc. RCV000802748 SCV001453034 uncertain significance Alstrom syndrome 2020-09-16 no assertion criteria provided clinical testing

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