ClinVar Miner

Submissions for variant NM_006019.4(TCIRG1):c.117+4A>T (rs751881962)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000005795 SCV000789364 likely pathogenic Osteopetrosis autosomal recessive 1 2017-01-26 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000005795 SCV000893226 likely pathogenic Osteopetrosis autosomal recessive 1 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000822060 SCV000962844 pathogenic not provided 2018-12-07 criteria provided, single submitter clinical testing This sequence change falls in intron 2 of the TCIRG1 gene. It does not directly change the encoded amino acid sequence of the TCIRG1 protein, but it affects a nucleotide within the consensus splice site of the intron. This variant is present in population databases (rs751881962, ExAC 0.009%). This variant has been observed in individuals affected with osteopetrosis (PMID: 10942435, 24989235, 15300850, 19507210). This variant is also known as IVS2+4A>T in the literature. ClinVar contains an entry for this variant (Variation ID: 5462). Nucleotide substitutions within the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Experimental studies have shown that this intronic change results in aberrant splicing of the TCIRG1 primary transcript (PMID: 10942435, 24989235, 15300850). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000005795 SCV000025977 pathogenic Osteopetrosis autosomal recessive 1 2000-08-12 no assertion criteria provided literature only

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