ClinVar Miner

Submissions for variant NM_017739.3(POMGNT1):c.698C>T (p.Ser233Phe) (rs569061665)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000413042 SCV000492339 uncertain significance not specified 2016-12-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the POMGNT1 gene. The S233F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S233F variant is observed in 43/16,512 (0.3%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S233F variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Serine are tolerated across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV000873590 SCV001015608 likely benign not provided 2018-11-16 criteria provided, single submitter clinical testing

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