ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.393_394delinsTG (p.Leu132Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005128892 SCV005753064 likely pathogenic not provided 2024-07-22 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 132 of the GNAS protein (p.Leu132Val). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of pseudopseudohypoparathyroidism (Invitae). In at least one individual the variant was observed to be de novo. 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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