Submissions for variant NM_001953.5(TYMP):c.1088del (p.Gly363fs)

dbSNP: rs1060499535

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003556266	SCV004300053	pathogenic	not provided	2024-01-06	criteria provided, single submitter	clinical testing	This sequence change results in a frameshift in the TYMP gene (p.Gly363Glufs*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 120 amino acid(s) of the TYMP protein and extend the protein by an uncertain number of additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TYMP-related conditions. ClinVar contains an entry for this variant (Variation ID: 223083). This variant results in an extension of the TYMP protein. Other variant(s) that result in a similarly extended protein product (p.Phe473Serfs*?) have been determined to be pathogenic (PMID: 21412940). This suggests that these extensions are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneReviews	RCV000208695	SCV000264565	pathogenic	Mitochondrial DNA depletion syndrome 1	2016-01-14	no assertion criteria provided	literature only
Genomics England Pilot Project, Genomics England	RCV000208695	SCV001760495	pathogenic	Mitochondrial DNA depletion syndrome 1		no assertion criteria provided	clinical testing