ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2344G>A (p.Val782Met)

gnomAD frequency: 0.00005  dbSNP: rs779910642
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001302227 SCV001491426 uncertain significance not provided 2022-10-24 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 782 of the TCIRG1 protein (p.Val782Met). This variant is present in population databases (rs779910642, gnomAD 0.01%). 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: 991515). 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 not expected to disrupt TCIRG1 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.
Fulgent Genetics, Fulgent Genetics RCV001279738 SCV002799793 uncertain significance Autosomal recessive osteopetrosis 1 2022-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV003294178 SCV003991637 uncertain significance Inborn genetic diseases 2023-05-31 criteria provided, single submitter clinical testing The c.2344G>A (p.V782M) alteration is located in exon 19 (coding exon 18) of the TCIRG1 gene. This alteration results from a G to A substitution at nucleotide position 2344, causing the valine (V) at amino acid position 782 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001279738 SCV001466859 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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