ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.12152_12155delinsACAT (p.Arg4051_Ser4052delinsHisIle)

dbSNP: rs1675710118
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001246341 SCV001419688 uncertain significance Alstrom syndrome 2022-08-09 criteria provided, single submitter clinical testing This variant, c.12155_12158delinsACAT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the ALMS1 protein (p.Arg4052_Ser4053delinsHisIle). This variant is not present in population databases (gnomAD no frequency). 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: 1405095). 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.

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