ClinVar Miner

Submissions for variant NM_000153.4(GALC):c.788C>G (p.Ala263Gly) (rs1292976689)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658303 SCV000780075 uncertain significance not provided 2018-05-23 criteria provided, single submitter clinical testing The A263G variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The A263G variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The A263G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. A different missense variant at the same residue (A263T) has been reported in association with Krabbe disease (Wenger et al. 1997; Saavedra-Matiz et al., 2016), supporting the functional importance of this region of the protein. In summary, based on the currently available information, it is unclear whether A263G is a pathogenic variant or a rare benign variant.

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