ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1061G>C (p.Cys354Ser)

gnomAD frequency: 0.00006  dbSNP: rs369222109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279334 SCV002783653 uncertain significance Autosomal recessive osteopetrosis 1 2022-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003770425 SCV004642283 uncertain significance not provided 2024-01-01 criteria provided, single submitter clinical testing This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 354 of the TCIRG1 protein (p.Cys354Ser). This variant is present in population databases (rs369222109, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. ClinVar contains an entry for this variant (Variation ID: 991167). 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 not expected to disrupt TCIRG1 protein function with a negative predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Natera, Inc. RCV001279334 SCV001466422 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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