ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.997G>A (p.Gly333Arg)

gnomAD frequency: 0.00002  dbSNP: rs777596548
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059991 SCV001224649 pathogenic not provided 2023-05-31 criteria provided, single submitter clinical testing Experimental studies have shown that this missense change affects RXYLT1 function (PMID: 27130732). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt RXYLT1 protein function. ClinVar contains an entry for this variant (Variation ID: 854859). This missense change has been observed in individuals with Walker-Warburg syndrome (PMID: 27130732). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs777596548, gnomAD 0.02%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 333 of the RXYLT1 protein (p.Gly333Arg). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV001059991 SCV005685760 likely pathogenic not provided 2024-07-24 criteria provided, single submitter clinical testing Observed in homozygous state in a probands with Walker-Warburg syndrome in the literature and not observed in homozygous state in controls (PMID: 27130732, 33199158); Functional studies show that the G333R variant disrupts the function of the RXYTL1 protein (PMID: 27130732); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33199158, 27130732)

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