ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.11881T>C (p.Trp3961Arg)

dbSNP: rs774496480
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001298131 SCV001487175 uncertain significance Alstrom syndrome 2021-04-03 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with ALMS1-related conditions. This variant is present in population databases (rs774496480, ExAC 0.006%). This sequence change replaces tryptophan with arginine at codon 3962 of the ALMS1 protein (p.Trp3962Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine.
Natera, Inc. RCV001298131 SCV002079041 uncertain significance Alstrom syndrome 2021-06-01 no assertion criteria provided clinical testing

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