ClinVar Miner

Submissions for variant NM_000489.5(ATRX):c.4317G>A (p.Lys1439=) (rs1569535642)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Miraca Genetics Laboratories, RCV000679879 SCV000807263 pathogenic ATR-X syndrome 2017-09-01 criteria provided, single submitter clinical testing The mutation is located in a conserved base adjacent to the invariant donor splice site. RNA studies showed that the c.4317G>A change decreases the efficiency of splicing at the normal splicing site and leads to abnormal splicing product with inclusion of 53 nucleotides of intronic sequence [PMID 596841]. It was found once in our laboratory in a 9-year-old male with severe global delays, microcephaly, ataxia, seizures, poor growth, cortical visual impairment, hypotonia, decreased muscle bulk, dysmorphisms, long narrow hands with conractures and tapered fingers, osteopenia.

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