ClinVar Miner

Submissions for variant NM_001814.6(CTSC):c.1103G>A (p.Gly368Glu)

dbSNP: rs1944274387
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV004035439 SCV001451632 uncertain significance CTSC-related disorder 2019-01-10 criteria provided, single submitter clinical testing The CTSC c.1103G>A (p.Gly368Glu) variant is a missense variant. A literature search was performed for the gene, cDNA, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database in a region of good sequence coverage so is presumed to be rare. Based on the limited evidence and application of the ACMG criteria, the p.Gly368Glu variant is classified as a variant of uncertain significance for CTSC-related disorders.

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