ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1354G>A (p.Glu452Lys)

gnomAD frequency: 0.00001  dbSNP: rs1232628050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001304867 SCV001494171 uncertain significance Alstrom syndrome 2022-09-06 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 453 of the ALMS1 protein (p.Glu453Lys). 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: 1007650). 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 RCV001304867 SCV002793001 uncertain significance Alstrom syndrome 2021-08-11 criteria provided, single submitter clinical testing

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