ClinVar Miner

Submissions for variant NM_178857.6(RP1L1):c.2927C>T (p.Ala976Val)

gnomAD frequency: 0.00013  dbSNP: rs200854148
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004029248 SCV005014498 likely benign Inborn genetic diseases 2023-12-13 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GenomeConnect, ClinGen RCV000844931 SCV000986747 not provided Stargardt disease no assertion provided phenotyping only Variant interpretted as Uncertain significance and reported on 12/28/2017 by GTR ID 239772. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV004751753 SCV005364604 uncertain significance RP1L1-related disorder 2024-09-25 no assertion criteria provided clinical testing The RP1L1 c.2927C>T variant is predicted to result in the amino acid substitution p.Ala976Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.080% of alleles in individuals of European (Finnish) descent in gnomAD, which may be too common to be an unreported cause of disease. Although we suspect that this variant may be benign, 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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