ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.59C>T (p.Ala20Val)

gnomAD frequency: 0.00002  dbSNP: rs377034463
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001278550 SCV002048794 uncertain significance Autosomal recessive osteopetrosis 1 2021-09-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001278550 SCV002786567 uncertain significance Autosomal recessive osteopetrosis 1 2022-02-16 criteria provided, single submitter clinical testing
GeneDx RCV002508303 SCV002817546 uncertain significance not provided 2022-06-28 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV002508303 SCV003445526 uncertain significance not provided 2022-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 20 of the TCIRG1 protein (p.Ala20Val). This variant is present in population databases (rs377034463, gnomAD 0.08%). 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: 990509). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Revvity Omics, Revvity RCV001278550 SCV003827143 uncertain significance Autosomal recessive osteopetrosis 1 2022-11-02 criteria provided, single submitter clinical testing
3billion RCV004731117 SCV005328582 likely benign Autosomal recessive osteopetrosis 1; Mitochondrial complex 1 deficiency, nuclear type 2 2024-09-20 criteria provided, single submitter clinical testing The homozygous variant was found in patients diagnosed with another variant in a different gene, with no symptoms related to the gene containing the homozygous variant.
Natera, Inc. RCV001278550 SCV001465568 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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