ClinVar Miner

Submissions for variant NM_022356.4(P3H1):c.1909G>A (p.Val637Met)

gnomAD frequency: 0.00001  dbSNP: rs983158177
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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 RCV001002012 SCV001159828 uncertain significance Osteogenesis imperfecta type 8 2018-07-31 criteria provided, single submitter clinical testing The P3H1 c.1909G>A; p.Val637Met variant (rs983158177), to our knowledge, is not described in the medical literature or in gene-specific databases. It is also absent from general population databases (1000 Genomes Project, Exome Variant Server, and Genome Aggregation Database), indicating it is not a common polymorphism. The valine at codon 637 is moderately conserved, but computational algorithms (PolyPhen-2: benign, SIFT: damaging) predict conflicting effects of this variant on protein structure/function. Due to lack of clinical and functional data regarding this variant, its clinical significance cannot be determined with certainty.

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