ClinVar Miner

Submissions for variant NM_001166114.2(PNPLA6):c.3148A>G (p.Met1050Val)

dbSNP: rs121434415
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000006984 SCV000027180 pathogenic Hereditary spastic paraplegia 39 2008-03-01 no assertion criteria provided literature only
GeneReviews RCV001559128 SCV001781213 not provided Ataxia-hypogonadism-choroidal dystrophy syndrome no assertion provided literature only To date reported only in homozygotes or compound heterozygotes with SPG39

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