ClinVar Miner

Submissions for variant NM_001379270.1(CNGA1):c.1044C>A (p.Ser348Arg)

gnomAD frequency: 0.00003  dbSNP: rs759079269
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Institute for Ophthalmic Research RCV001002953 SCV001162464 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
Labcorp Genetics (formerly Invitae), Labcorp RCV001322243 SCV001513105 likely pathogenic not provided 2023-08-14 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 812274). This variant is also known as c.1263C>A p.(Ser421Arg). This missense change has been observed in individual(s) with retinitis pigmentosa (PMID: 31456290, 32531858; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.1%). This sequence change replaces serine, which is neutral and polar, with arginine, which is basic and polar, at codon 352 of the CNGA1 protein (p.Ser352Arg).
Sharon lab, Hadassah-Hebrew University Medical Center RCV001002953 SCV001160994 likely pathogenic Retinitis pigmentosa 2019-06-23 no assertion criteria provided research

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