ClinVar Miner

Submissions for variant NM_006846.3(SPINK5):c.817_818del (p.Asn273fs) (rs761490126)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000604151 SCV000712208 likely pathogenic Netherton syndrome 2016-06-06 criteria provided, single submitter clinical testing The p.Asn273GlnfsX2 variant in SPINK5 has not been previously reported in indivi duals with Netherton syndrome and has been identified in 1/120,208 of chromosome s by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Th is variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 273 and leads to a premature termination cod on 2 amino acids downstream. This alteration is then predicted to lead to a trun cated or absent protein. Biallelic loss of function of SPINK5 is an established disease mechanism for Netherton syndrome. In summary, this variant meets our cr iteria to be classified as pathogenic for Netherton syndrome in an autosomal rec essive manner, based upon its predicted functional impact.

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