ClinVar Miner

Submissions for variant NM_014254.3(RXYLT1):c.539G>T (p.Trp180Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV002471997 SCV002767708 uncertain significance Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10 2020-05-21 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_014254.2(RXYLT1):c.539G>T in exon 4 of 6 of the RXYLT1 gene (NB: this variant is non-coding in alternative transcripts). This substitution is predicted to create a minor amino acid change from a tryptophan to a leucine at position 180 of the protein; NP_055069.1(RXYLT1):p.(Trp180Leu). The tryptophan at this position has very high conservation (100 vertebrates, UCSC), and is not located in a particular domain (NCBI, PDB, UniProt). In silico software predictions of the pathogenicity of this variant are conflicting (PolyPhen2, PROVEAN, MutationAssessor, FATHMM). The variant is not present in the gnomAD population database and has not previously been reported in clinical cases. Based on information available at the time of curation, this variant has been classified as a VUS.

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