ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.593T>C (p.Ile198Thr) (rs1483461355)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000756199 SCV000883933 likely pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing The GALT c.593T>C; p.Ile198Thr variant has been described in at least one individual affected with galactosemia (Elsas 1998) and is only observed on 2 alleles in the Genome Aggregation Database. The isoleucine at codon 198 is weakly conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) are inconclusive on the effect of this variant on protein structure and/or function. Another variant at this codon (c.594T>G; p.Ile198Met) has been reported in an individual affected with galactosemia and is considered pathogenic (see link to ARUP GALT database, Elsas 1998). Based on available information, this variant is considered likely pathogenic. References: ARUP GALT Database: Elsas L et al. The molecular biology of galactosemia. Genet Med. 1998 Nov-Dec;1(1):40-8.

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