ClinVar Miner

Submissions for variant NM_152594.3(SPRED1):c.196A>C (p.Arg66=)

gnomAD frequency: 0.00001  dbSNP: rs751923342
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520815 SCV000619692 uncertain significance not provided 2017-07-31 criteria provided, single submitter clinical testing The c.196 A>C (R66=) variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The variant is observed in 1/11492 (0.0087%) alleles from individuals of Latino background in the ExAC dataset (Lek et al., 2016). c.196 A>C is a synonymous variant, and in silico analysis predicts this variant likely does not alter gene splicing. However, this variant occurs at a position that is conserved across species. In summary, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Invitae RCV002060276 SCV002337665 likely benign Legius syndrome 2022-09-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV003159678 SCV003868993 likely benign Cardiovascular phenotype 2023-01-12 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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