ClinVar Miner

Submissions for variant NM_018109.4(MTPAP):c.1468G>T (p.Val490Leu)

dbSNP: rs1057518710
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000414824 SCV000328823 uncertain significance Spastic ataxia 4 2015-07-01 no assertion criteria provided clinical testing Our laboratory reported dual molecular diagnoses in MTPAP (NM_018109.3, c.1468G>T) and NPC1 (NM_000271.3, c.839delT and c.2747A>G) in one individual with reported features of global developmental delay, developmental regression, central hypotonia, short stature, failure to thrive, familial neurodegenerative disease, cerebellar problems on brain MRI, absence like episodes, left hip dislocation, and constipation. Similarly affected sibling was also homozygous for MTPAP variant.

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