ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6816G>A (p.Met2272Ile)

gnomAD frequency: 0.00013  dbSNP: rs765233946
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665015 SCV000789068 uncertain significance Alstrom syndrome 2017-01-19 criteria provided, single submitter clinical testing
Invitae RCV000665015 SCV002983338 uncertain significance Alstrom syndrome 2022-02-21 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 2273 of the ALMS1 protein (p.Met2273Ile). This variant is present in population databases (rs765233946, gnomAD 0.02%). 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: 550304). 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.

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