Submissions for variant NM_006019.4(TCIRG1):c.553del (p.Leu185fs)

dbSNP: rs1855280375

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology	RCV001257141	SCV001432485	pathogenic	Autosomal recessive osteopetrosis 1	2020-09-04	criteria provided, single submitter	clinical testing	The c.553del variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Exome Aggregation Consortium (ExAC), Genome Aggregation Database (gnomAD) and dbSNP. The variant is not present in our in-house exome database. The variant was not earlier reported to ClinVar, OMIM and Human Genome Mutation Database (HGMD) in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc. predicted this variant to be likely deleterious. The variant causes a frameshift at 185thamino acid position that creates stop codon at 209thamino acid position of the altered transcript. This may either cause a nonsense mediated decay of the mRNA resulting in no protein or a truncated protein due to premature stop codon. The variant meets our criteria to be classified as pathogenic.
Molecular Lab, Department of Haematology,Christian Medical College	RCV001257141	SCV002516048	pathogenic	Autosomal recessive osteopetrosis 1	2022-05-20	criteria provided, single submitter	clinical testing