ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.234dup (p.Asp79fs)

dbSNP: rs1566867209
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695156 SCV000823638 pathogenic Legius syndrome 2018-05-24 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in SPRED1 are known to be pathogenic (PMID: 17704776). This variant has not been reported in the literature in individuals with SPRED1-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp79Argfs*5) in the SPRED1 gene. It is expected to result in an absent or disrupted protein product.
Ambry Genetics RCV003372813 SCV004085721 pathogenic Inborn genetic diseases 2023-08-04 criteria provided, single submitter clinical testing The c.234dupA (p.D79Rfs*5) alteration, located in exon 3 (coding exon 3) of the SPRED1 gene, consists of a duplication of A at position 234, causing a translational frameshift with a predicted alternate stop codon after 5 amino acids. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). Based on the available evidence, this alteration is classified as pathogenic.

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