ClinVar Miner

Submissions for variant NM_001110792.2(MECP2):c.1115C>A (p.Ser372Ter) (rs61752372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000132847 SCV000282499 pathogenic Rett syndrome 2015-12-16 criteria provided, single submitter clinical testing The c.1079C>A (p.Ser360Ter) variant results in a termination codon predicted to cause a truncation of last 126 amino acids. Truncations downstream of this position have been classified as pathogenic/likely pathogenic by our laboratory. Variant has been previously reported in a patient with Rett syndrome (Buyse et al, 2000) and reported as pathogenic by two reputable databases. It has not been reported in general population from ExAC or NHLBI ESP. Taken together, this variant is classified as Pathogenic.
RettBASE RCV000132847 SCV000187826 pathogenic Rett syndrome 2002-04-10 no assertion criteria provided curation

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