ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)

gnomAD frequency: 0.00006  dbSNP: rs142217951
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology RCV000496041 SCV000584062 likely pathogenic TELO2-related intellectual disability-neurodevelopmental disorder 2017-06-08 criteria provided, single submitter research
GeneDx RCV001554922 SCV001776256 uncertain significance not provided 2021-04-30 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002524061 SCV003527824 uncertain significance Inborn genetic diseases 2022-03-29 criteria provided, single submitter clinical testing The c.1772T>G (p.V591G) alteration is located in exon 15 (coding exon 14) of the TELO2 gene. This alteration results from a T to G substitution at nucleotide position 1772, causing the valine (V) at amino acid position 591 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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