ClinVar Miner

Submissions for variant NM_003999.3(OSMR):c.2081C>T (p.Pro694Leu)

gnomAD frequency: 0.00003  dbSNP: rs387906822
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000439038 SCV000521257 likely pathogenic not provided 2016-10-31 criteria provided, single submitter clinical testing The P694L variant in the OSMR gene has been reported previously in the heterozygous state, in multiple individuals with familial and sporadic primary cutaneous amyloidosis (Lin et al., 2010; Schreml et al., 2013). The P694L variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The P694L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, we interpret P694L as a likely pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
OMIM RCV000023144 SCV000044435 pathogenic Amyloidosis, primary localized cutaneous, 1 2010-01-01 no assertion criteria provided literature only

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