ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1238-20A>G

gnomAD frequency: 0.00002  dbSNP: rs771811655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664699 SCV000788702 likely benign Alstrom syndrome 2017-01-05 criteria provided, single submitter clinical testing
Invitae RCV000664699 SCV003475676 uncertain significance Alstrom syndrome 2022-06-03 criteria provided, single submitter clinical testing This sequence change falls in intron 5 of the ALMS1 gene. It does not directly change the encoded amino acid sequence of the ALMS1 protein. This variant is present in population databases (rs771811655, gnomAD 0.05%). 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: 550071). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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