ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.577-2A>G

dbSNP: rs1589451050
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000014303 SCV002247266 pathogenic Sphingolipid activator protein 1 deficiency 2021-05-18 criteria provided, single submitter clinical testing Studies have shown that disruption of this splice site is associated with partial and complete skipping of exon 6 but is expected to preserve the integrity of the reading frame (PMID: 8554069). For these reasons, this variant has been classified as Pathogenic. Experimental studies have shown that this variant affects PSAP protein function (PMID: 8554069). Disruption of this splice site has been observed in individual(s) with saposin B deficiency and metachromatic leukodystrophy (PMID: 19267410, 26462614). ClinVar contains an entry for this variant (Variation ID: 13374). This variant is not present in population databases (ExAC no frequency). This sequence change affects an acceptor splice site in intron 5 of the PSAP gene. RNA analysis indicates that this variant induces altered splicing and likely results in a shortened protein product.
OMIM RCV000014303 SCV000034552 pathogenic Sphingolipid activator protein 1 deficiency 2009-02-15 no assertion criteria provided literature only

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