ClinVar Miner

Submissions for variant NM_002979.5(SCP2):c.550dup (p.Ile184fs)

dbSNP: rs1572119109
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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 RCV002513018 SCV003523295 pathogenic not provided 2024-09-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile184Asnfs*7) in the SCP2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCP2 are known to be pathogenic (PMID: 16685654, 26497993). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive leukoencephalopathy (PMID: 16685654). This variant is also known as 545_546insA (I184fsX7). ClinVar contains an entry for this variant (Variation ID: 12810). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000013658 SCV000033905 pathogenic Sterol carrier protein 2 deficiency 2006-06-01 no assertion criteria provided literature only

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