ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.3578C>T (p.Ser1193Leu)

gnomAD frequency: 0.00006  dbSNP: rs200636395
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665558 SCV000789703 uncertain significance Alstrom syndrome 2017-02-10 criteria provided, single submitter clinical testing
Invitae RCV000665558 SCV001397213 uncertain significance Alstrom syndrome 2022-06-10 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1194 of the ALMS1 protein (p.Ser1194Leu). This variant is present in population databases (rs200636395, gnomAD 0.006%). 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: 550733). 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 leucine 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.
GeneDx RCV003319392 SCV004023800 uncertain significance not provided 2023-02-03 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
Natera, Inc. RCV000665558 SCV002080488 uncertain significance Alstrom syndrome 2021-10-13 no assertion criteria provided clinical testing

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