ClinVar Miner

Submissions for variant NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala) (rs1057516035)

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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 RCV000408618 SCV000484429 likely pathogenic Holocarboxylase synthetase deficiency 2015-07-21 criteria provided, single submitter clinical testing This homozygous variant was identified in a patient with biochemical features of HLCS deficiency. This substitution is predicted to result in a change of a glycine to an alanine at position 241, NP_00402.3, p.(Gly241Ala). The amino acid at this position is highly conserved, and in a functional domain (GAT_1, type 1 glutamine amidotransferase-like domain). This substitution is predicted to be disease-causing by in-silico models, and is novel. Another substitution at the same position, p.(Gly241Trp) has been reported as disease-causing in another family (De Castro et al 2015, JIMD 20:1-4).

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