ClinVar Miner

Submissions for variant NM_003611.3(OFD1):c.2981G>A (p.Ser994Asn)

dbSNP: rs1555909002
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658336 SCV000780108 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the OFD1 gene. The S994N variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The S994N variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In-silico analyses, including protein predictors and evolutionary conservation, support that this variant does not alter protein structure/function. However, the S994N variant is not observed in large population cohorts (Lek et al., 2016). Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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