ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4123A>G (p.Thr1375Ala) (rs760866713)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665884 SCV000790079 uncertain significance Alstrom syndrome 2017-03-14 criteria provided, single submitter clinical testing
Invitae RCV000665884 SCV000826664 uncertain significance Alstrom syndrome 2018-06-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with alanine at codon 1376 of the ALMS1 protein (p.Thr1376Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine This variant is present in population databases (rs760866713, ExAC 0.03%). This variant has not been reported in the literature in individuals with ALMS1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001584534 SCV001819751 uncertain significance not provided 2020-11-16 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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001779043 SCV002014947 uncertain significance not specified 2021-10-17 criteria provided, single submitter clinical testing

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