ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1331G>T (p.Arg444Leu)

gnomAD frequency: 0.00006  dbSNP: rs137853151
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000005797 SCV004205773 likely pathogenic Autosomal recessive osteopetrosis 1 2023-12-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003555929 SCV004294900 pathogenic not provided 2023-03-20 criteria provided, single submitter clinical testing 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: 5464). This missense change has been observed in individuals with infantile malignant osteopetrosis (PMID: 11532986). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this missense change affects TCIRG1 function (PMID: 22685294). This variant is present in population databases (rs137853151, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 444 of the TCIRG1 protein (p.Arg444Leu).
Fulgent Genetics, Fulgent Genetics RCV000005797 SCV005684258 pathogenic Autosomal recessive osteopetrosis 1 2024-01-05 criteria provided, single submitter clinical testing
OMIM RCV000005797 SCV000025979 pathogenic Autosomal recessive osteopetrosis 1 2001-08-15 no assertion criteria provided literature only

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