ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) (rs199922877)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins NTD, LLC RCV000418778 SCV000232740 uncertain significance not provided 2015-02-17 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000418778 SCV000511342 likely benign not provided 2016-09-01 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
GeneDx RCV000418778 SCV000573685 uncertain significance not provided 2021-09-22 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
Invitae RCV000634783 SCV000756126 uncertain significance Alstrom syndrome 2017-09-22 criteria provided, single submitter clinical testing This sequence change replaces threonine with serine at codon 1032 of the ALMS1 protein (p.Thr1032Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. This variant is present in population databases (rs199922877, ExAC 0.08%). This variant has not been reported in the literature in individuals with ALMS1-related disease. ClinVar contains an entry for this variant (Variation ID: 198870). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. RCV000634783 SCV001453447 likely benign Alstrom syndrome 2020-05-02 no assertion criteria provided clinical testing

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