ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.1269G>A (p.Ala423=)

gnomAD frequency: 0.00010  dbSNP: rs147119709
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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 RCV000904965 SCV001049523 likely benign not provided 2024-01-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001276542 SCV001462938 uncertain significance Autosomal recessive osteopetrosis 1 2020-04-15 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004749528 SCV005344705 uncertain significance TCIRG1-related disorder 2024-05-03 no assertion criteria provided clinical testing The TCIRG1 c.1269G>A is a noncoding alteration. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.023% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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