ClinVar Miner

Submissions for variant NM_000096.4(CP):c.929G>A (p.Arg310His)

gnomAD frequency: 0.00010  dbSNP: rs202217551
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000658110 SCV000779881 uncertain significance not provided 2018-05-31 criteria provided, single submitter clinical testing The R310H variant in the CP gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R310H variant is observed in 55/276906 (0.0199%) alleles in large population cohorts, with no homozygotes observed (Lek et al., 2016). The R310H 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 a deleterious effect. We interpret R310H as a variant of uncertain significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001230054 SCV001402522 likely benign Deficiency of ferroxidase 2024-05-16 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000658110 SCV001747382 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001230054 SCV002788536 uncertain significance Deficiency of ferroxidase 2022-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003938008 SCV004752890 uncertain significance CP-related disorder 2023-11-14 no assertion criteria provided clinical testing The CP c.929G>A variant is predicted to result in the amino acid substitution p.Arg310His. This variant was reported in an individual with Retinal / optic nerve disease, but was classified as uncertain (Table S12, Diñeiro et al 2020. PubMed ID: 32483926). This variant is reported in 0.11% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/3-148925257-C-T). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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