ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1213G>C (p.Gly405Arg)

dbSNP: rs137853150
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667452 SCV000791900 pathogenic Autosomal recessive osteopetrosis 1 2017-05-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000667452 SCV000893227 likely pathogenic Autosomal recessive osteopetrosis 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001377672 SCV001575063 pathogenic not provided 2022-08-23 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TCIRG1 protein function. ClinVar contains an entry for this variant (Variation ID: 552227). This missense change has been observed in individuals with osteopetrosis (PMID: 11532986, 12552563, 22231430, 29363653). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 405 of the TCIRG1 protein (p.Gly405Arg).

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