ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) (rs371263807)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666300 SCV000790569 pathogenic Osteopetrosis autosomal recessive 1 2017-03-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV000666300 SCV000807565 pathogenic Osteopetrosis autosomal recessive 1 2017-09-01 criteria provided, single submitter clinical testing This nonsense variant has been previously reported as disease-causing and was found once in our laboratory with a missense variant (S474L, phase unknown) in a 17-year-old male with intellectual disability, autism spectrum, dysmorphisms, macrocephaly, advance bone age, precocious puberty, possible hearing loss, ichthyosis (and STS deletion), frequent fractures with decreased bone density, joint laxity.
Invitae RCV000819121 SCV000959764 pathogenic not provided 2018-10-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg670*) in the TCIRG1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs371263807, ExAC 0.005%). This variant has been observed in several individuals affected with TCIRG1-related conditions (PMID: 11532986). Loss-of-function variants in TCIRG1 are known to be pathogenic (PMID: 10888887, 10942435, 11532986, 19448635). For these reasons, this variant has been classified as Pathogenic.

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