ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1144C>T (p.Arg382Cys)

gnomAD frequency: 0.00003  dbSNP: rs566684294
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001362180 SCV001558184 uncertain significance not provided 2022-04-10 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 382 of the TCIRG1 protein (p.Arg382Cys). This variant is present in population databases (rs566684294, 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: 1053788). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The cysteine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Ambry Genetics RCV002550024 SCV003599472 uncertain significance Inborn genetic diseases 2022-01-26 criteria provided, single submitter clinical testing The c.1144C>T (p.R382C) alteration is located in exon 10 (coding exon 9) of the TCIRG1 gene. This alteration results from a C to T substitution at nucleotide position 1144, causing the arginine (R) at amino acid position 382 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001826017 SCV002094908 uncertain significance Autosomal recessive osteopetrosis 1 2020-02-13 no assertion criteria provided clinical testing

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