ClinVar Miner

Submissions for variant NM_002834.5(PTPN11):c.179_181del (p.Gly60del)

dbSNP: rs80338836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002513041 SCV003441236 uncertain significance RASopathy 2022-07-06 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 13346). This variant has been observed in individual(s) with Noonan syndrome (PMID: 15211660, 34184824). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This variant, c.179_181del, results in the deletion of 1 amino acid(s) of the PTPN11 protein (p.Gly60del), but otherwise preserves the integrity of the reading frame.
OMIM RCV000014274 SCV000034523 pathogenic Noonan syndrome 1 2004-07-01 no assertion criteria provided literature only
GeneReviews RCV000014274 SCV000040936 not provided Noonan syndrome 1 no assertion provided literature only

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