ClinVar Miner

Submissions for variant NM_002778.4(PSAP):c.207_209del (p.Val70del)

dbSNP: rs757687480
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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 RCV002513042 SCV003441526 uncertain significance Sphingolipid activator protein 1 deficiency 2022-03-19 criteria provided, single submitter clinical testing This variant, c.207_209del, results in the deletion of 1 amino acid(s) of the PSAP protein (p.Val70del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs757687480, gnomAD 0.0009%). This variant has been observed in individual(s) with clinical features of combined saposin deficiency (PMID: 15773042). ClinVar contains an entry for this variant (Variation ID: 13369). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
OMIM RCV000014298 SCV000034547 pathogenic Krabbe disease due to saposin A deficiency 2005-02-01 no assertion criteria provided literature only

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