ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.1139T>C (p.Ile380Thr)

gnomAD frequency: 0.00002  dbSNP: rs199872225
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001211074 SCV001382596 uncertain significance Alstrom syndrome 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 381 of the ALMS1 protein (p.Ile381Thr). This variant is present in population databases (rs199872225, gnomAD 0.02%). 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: 941316). 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 RCV001211074 SCV002783619 uncertain significance Alstrom syndrome 2022-03-22 criteria provided, single submitter clinical testing
GeneDx RCV003227009 SCV003923354 uncertain significance not provided 2023-05-01 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001211074 SCV002080402 uncertain significance Alstrom syndrome 2020-03-11 no assertion criteria provided clinical testing

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