ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1088G>A (p.Arg363His)

gnomAD frequency: 0.00001  dbSNP: rs755474518
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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 RCV001279335 SCV002786984 uncertain significance Autosomal recessive osteopetrosis 1 2021-07-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002541707 SCV003448754 uncertain significance not provided 2022-02-25 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 363 of the TCIRG1 protein (p.Arg363His). 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: 991168). 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: "Benign"; Align-GVGD: "Class C0"). 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. RCV001279335 SCV001466423 uncertain significance Autosomal recessive osteopetrosis 1 2020-08-14 no assertion criteria provided clinical testing

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