ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.9382G>A (p.Val3128Ile)

gnomAD frequency: 0.00001  dbSNP: rs764937531
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001066079 SCV001231074 uncertain significance Alstrom syndrome 2022-07-29 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 3129 of the ALMS1 protein (p.Val3129Ile). This variant is present in population databases (rs764937531, gnomAD 0.01%). 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: 859874). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001066079 SCV002078932 uncertain significance Alstrom syndrome 2020-12-09 no assertion criteria provided clinical testing

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