ClinVar Miner

Submissions for variant NM_004782.4(SNAP29):c.487dup (p.Ser163fs)

dbSNP: rs387907363
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000727658 SCV000854962 pathogenic not provided 2017-10-25 criteria provided, single submitter clinical testing
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences RCV000043503 SCV001451949 pathogenic CEDNIK syndrome criteria provided, single submitter research
GeneDx RCV000727658 SCV001796371 pathogenic not provided 2023-09-15 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 28388629, 21073448, 25958742, 33977139, 35568357, 31069529)
Invitae RCV000727658 SCV004298833 pathogenic not provided 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser163Lysfs*6) in the SNAP29 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SNAP29 are known to be pathogenic (PMID: 15968592, 21073448). This variant is present in population databases (rs768735498, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (PMID: 21073448). This variant is also known as c.486insA. ClinVar contains an entry for this variant (Variation ID: 50295). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000043503 SCV000067347 pathogenic CEDNIK syndrome 2011-03-01 no assertion criteria provided literature only

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