ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1487C>T (p.Thr496Met)

gnomAD frequency: 0.00058  dbSNP: rs141474168
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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 RCV002069456 SCV002442730 likely benign not provided 2024-01-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV004035486 SCV004963592 uncertain significance Inborn genetic diseases 2022-12-19 criteria provided, single submitter clinical testing The c.1487C>T (p.T496M) alteration is located in exon 13 (coding exon 12) of the TCIRG1 gene. This alteration results from a C to T substitution at nucleotide position 1487, causing the threonine (T) at amino acid position 496 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV002069456 SCV005218215 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001279340 SCV001466428 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-16 no assertion criteria provided clinical testing

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