ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.545C>T (p.Pro182Leu)

gnomAD frequency: 0.00018  dbSNP: rs148511084
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670562 SCV000795426 uncertain significance Tay-Sachs disease 2017-11-16 criteria provided, single submitter clinical testing
Invitae RCV000670562 SCV001517777 uncertain significance Tay-Sachs disease 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 182 of the HEXA protein (p.Pro182Leu). This variant is present in population databases (rs148511084, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. ClinVar contains an entry for this variant (Variation ID: 554859). 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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 RCV001756136 SCV001996310 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV000670562 SCV002086296 uncertain significance Tay-Sachs disease 2018-05-01 no assertion criteria provided clinical testing

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