ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.991G>A (p.Ala331Thr)

gnomAD frequency: 0.00001  dbSNP: rs773402451
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV001279329 SCV002783724 uncertain significance Autosomal recessive osteopetrosis 1 2022-01-05 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002537843 SCV003475417 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 threonine, which is neutral and polar, at codon 331 of the TCIRG1 protein (p.Ala331Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. 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: 991162). 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 threonine 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.
Natera, Inc. RCV001279329 SCV001466417 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing

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