ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.17G>A (p.Arg6Gln)

dbSNP: rs768203698
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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 RCV002537802 SCV003502110 uncertain significance not provided 2022-05-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 6 of the TCIRG1 protein (p.Arg6Gln). This variant is present in population databases (rs768203698, 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: 990508). 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"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.
PreventionGenetics, part of Exact Sciences RCV003405483 SCV004109844 uncertain significance TCIRG1-related disorder 2023-08-21 criteria provided, single submitter clinical testing The TCIRG1 c.17G>A variant is predicted to result in the amino acid substitution p.Arg6Gln. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.019% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/11-67808755-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001278549 SCV001465566 uncertain significance Autosomal recessive osteopetrosis 1 2020-08-14 no assertion criteria provided clinical testing

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