ClinVar Miner

Submissions for variant NM_000612.6(IGF2):c.199G>A (p.Val67Ile)

dbSNP: rs1564894953
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001797006 SCV002038517 uncertain significance Silver-Russell syndrome 3 2021-05-12 criteria provided, single submitter clinical testing The IGF2 c.367G>A (p.Val123Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000009 in the European (non-Finnish) population of the Genome Aggregation Database (version 2.1.1), though this is based on a single allele in a region of good sequencing coverage, suggesting that the variant is rare. Based on the limited evidence, the p.Val123Ile variant is classified as a variant of uncertain significance for Silver-Russel syndrome.

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