ClinVar Miner

Submissions for variant NM_016204.4(GDF2):c.1051T>C (p.Tyr351His) (rs1486994359)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000805895 SCV000945870 likely pathogenic Telangiectasia, hereditary hemorrhagic, type 5 2020-10-07 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with histidine at codon 351 of the GDF2 protein (p.Tyr351His). The tyrosine residue is highly conserved and there is a moderate physicochemical difference between tyrosine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with pulmonary hypertension (PMID: 31661308, Invitae). ClinVar contains an entry for this variant (Variation ID: 650693). Experimental studies have shown that this variant affects GDF2 protein function (PMID: 31661308). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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