ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.550C>T (p.Arg184Cys)

gnomAD frequency: 0.00001  dbSNP: rs1375468915
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001340243 SCV001534043 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 184 of the TCIRG1 protein (p.Arg184Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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. RCV001831059 SCV002094901 uncertain significance Autosomal recessive osteopetrosis 1 2021-06-27 no assertion criteria provided clinical testing

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