ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.764G>A (p.Gly255Glu)

gnomAD frequency: 0.00001  dbSNP: rs1379501520
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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 RCV003120525 SCV003789451 uncertain significance not provided 2021-12-25 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 255 of the TCIRG1 protein (p.Gly255Glu). 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: 991160). 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.
Ambry Genetics RCV004035485 SCV004963610 uncertain significance Inborn genetic diseases 2023-12-28 criteria provided, single submitter clinical testing The c.764G>A (p.G255E) alteration is located in exon 8 (coding exon 7) of the TCIRG1 gene. This alteration results from a G to A substitution at nucleotide position 764, causing the glycine (G) at amino acid position 255 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279327 SCV001466415 uncertain significance Autosomal recessive osteopetrosis 1 2020-08-13 no assertion criteria provided clinical testing

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