ClinVar Miner

Submissions for variant NM_001201402.2(GALC):c.113C>T (p.Pro38Leu) (rs181004720)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000579068 SCV000681353 uncertain significance not provided 2018-01-23 criteria provided, single submitter clinical testing The P38L variant in the GALC gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The P38L variant is observed in 24/14562 (X%) alleles from individuals of African background in large population cohorts, with no homozygotes observed (Lek et al., 2016). The P38L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. We interpret P38L as a variant of uncertain significance.

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