ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3255G>T (p.Gln1085His)

dbSNP: rs181507134
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298073 SCV001487114 uncertain significance Alstrom syndrome 2022-07-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with histidine, which is basic and polar, at codon 1086 of the ALMS1 protein (p.Gln1086His). This variant is present in population databases (rs181507134, gnomAD 0.09%). 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: 1001738). 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.
Fulgent Genetics, Fulgent Genetics RCV001298073 SCV002790611 uncertain significance Alstrom syndrome 2021-12-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001298073 SCV002080477 uncertain significance Alstrom syndrome 2021-10-13 no assertion criteria provided clinical testing

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