ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.346G>A (p.Val116Ile)

dbSNP: rs752342634
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000498257 SCV000590480 uncertain significance not provided 2023-09-15 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); 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
Invitae RCV001319114 SCV001509844 uncertain significance Alstrom syndrome 2022-09-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 117 of the ALMS1 protein (p.Val117Ile). 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: 432725). 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 RCV001319114 SCV002791343 uncertain significance Alstrom syndrome 2022-03-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323572 SCV004029131 uncertain significance not specified 2023-07-17 criteria provided, single submitter clinical testing
Natera, Inc. RCV001319114 SCV002080378 uncertain significance Alstrom syndrome 2021-02-17 no assertion criteria provided clinical testing

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