ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.237C>G (p.His79Gln)

gnomAD frequency: 0.00017  dbSNP: rs200620643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000535092 SCV000652993 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with glutamine, which is neutral and polar, at codon 79 of the RXYLT1 protein (p.His79Gln). This variant is present in population databases (rs200620643, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with RXYLT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 473414). 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 glutamine 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 RCV000535092 SCV001875254 uncertain significance not provided 2021-08-02 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; This variant is associated with the following publications: (PMID: 23217329, 23519211, 27130732)
Revvity Omics, Revvity RCV003486883 SCV004236627 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2023-07-19 criteria provided, single submitter clinical testing

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