ClinVar Miner

Submissions for variant NM_000193.4(SHH):c.1085C>T (p.Ser362Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001286681 SCV001473292 likely pathogenic none provided 2020-03-03 criteria provided, single submitter clinical testing The SHH c.1085C>T; p.Ser362Leu variant is reported in the literature as a confirmed de novo variant in a set of monozygotic twins affected with holoprosencephaly (Peng 2007). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The serine at codon 362 is moderately conserved, and computational analyses (SIFT, PolyPhen-2) predict that this variant is deleterious. Based on available information, this variant is considered to be likely pathogenic. References: Peng HH et al. Discordant semilobar holoprosencephaly in monozygotic twins with de novo inv dup(15) marker chromosome and de novo mutation on SHH gene. Fetal Diagn Ther. 2007;22(5):389-93.

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