ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.656T>C (p.Phe219Ser)

dbSNP: rs748465503
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000179912 SCV000232232 uncertain significance not provided 2014-12-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000179912 SCV001534045 uncertain significance not provided 2023-07-07 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TCIRG1 protein function. ClinVar contains an entry for this variant (Variation ID: 198537). This variant has not been reported in the literature in individuals affected with TCIRG1-related conditions. 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 sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 219 of the TCIRG1 protein (p.Phe219Ser).
Fulgent Genetics, Fulgent Genetics RCV002503696 SCV002816797 uncertain significance Autosomal recessive osteopetrosis 1 2021-10-11 criteria provided, single submitter clinical testing

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