ClinVar Miner

Submissions for variant NM_005765.3(ATP6AP2):c.321C>T (p.Asp107=) (rs121918521)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000011548 SCV001419215 pathogenic Mental retardation, X-linked, syndromic, Hedera type 2019-11-03 criteria provided, single submitter clinical testing This sequence change affects codon 107 of the ATP6AP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ATP6AP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of ATP6AP2-related conditions (PMID: 15746149). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 10801). This variant has been reported to affect ATP6AP2 protein function (PMID: 15746149). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 15746149). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000011548 SCV000031780 pathogenic Mental retardation, X-linked, syndromic, Hedera type 2005-04-15 no assertion criteria provided literature only

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