ClinVar Miner

Submissions for variant NM_000541.5(SAG):c.511A>G (p.Lys171Glu) (rs552862207)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000898513 SCV001042723 benign not provided 2020-11-03 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV001002635 SCV001160618 uncertain significance not specified 2019-06-19 criteria provided, single submitter clinical testing The SAG c.511A>G; p.Lys171Glu variant (rs552862207), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is found in the South Asian population with an allele frequency of 0.95% (291/30600 alleles including 2 homozygotes) in the Genome Aggregation Database. The amino acid at this position is weakly conserved and computational analyses (SIFT: Damaging, PolyPhen-2: Benign) predict conflicting effects of this variant on protein structure/function. Due to limited information, the clinical significance of the variant is uncertain at this time.

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