ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11516C>T (p.Thr3839Ile)

gnomAD frequency: 0.00001  dbSNP: rs376255515
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671197 SCV000796149 uncertain significance Alstrom syndrome 2017-12-04 criteria provided, single submitter clinical testing
Invitae RCV000671197 SCV002149140 uncertain significance Alstrom syndrome 2022-02-23 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 3840 of the ALMS1 protein (p.Thr3840Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs376255515, gnomAD 0.004%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 555381). This variant has not been reported in the literature in individuals affected with ALMS1-related conditions.
Fulgent Genetics, Fulgent Genetics RCV000671197 SCV002784437 uncertain significance Alstrom syndrome 2021-11-16 criteria provided, single submitter clinical testing

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