ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2486A>G (p.Asp829Gly)

gnomAD frequency: 0.00001  dbSNP: rs147175413
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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 RCV001871580 SCV002129032 uncertain significance not provided 2022-06-20 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 829 of the TCIRG1 protein (p.Asp829Gly). This variant is present in population databases (rs147175413, gnomAD 0.006%). 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: 991518). 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 glycine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Natera, Inc. RCV001279741 SCV001466862 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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