ClinVar Miner

Submissions for variant NM_001029883.3(PCARE):c.2890G>A (p.Gly964Ser) (rs371925633)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000757046 SCV000885128 uncertain significance not specified 2018-07-09 criteria provided, single submitter clinical testing The C2orf71 c.2890G>A;p.Gly964Ser variant has not been published in the medical literature, gene-specific databases, or in the ClinVar database. The variant is listed in the dbSNP variant database (rs371925633) with an allele frequency of up to 0.0254 percent (1/3929 alleles) in African Americans in the Exome Variant Server and 0.2599 percent (80/30782 alleles, 1 homozygote) in South Asians in the Genome Aggregation Database. The amino acid at this position is weakly conserved cross species, with both Rhesus and dog having a serine at this position, and computational algorithms (AlignGVGD, SIFT, MutationTaster) predict this variant is tolerated. Considering available information, the clinical significance of this variant cannot be determined with certainty. Pathogenic C2orf71 variants are causative for autosomal recessive retinitis pigmentosa (OMIM#613425).
Invitae RCV001522596 SCV001732171 benign not provided 2020-03-10 criteria provided, single submitter clinical testing

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