ClinVar Miner

Submissions for variant NM_018133.4(MSL2):c.796_797del (p.Leu266fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005103927 SCV005804271 uncertain significance not provided 2024-10-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu266Valfs*5) in the MSL2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 312 amino acid(s) of the MSL2 protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with MSL2-related conditions (PMID: 33057194, 33860439, 35982159). 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.
Yong-hui Jiang Laboratory, Yale University RCV003331565 SCV004037581 pathogenic Syndromic neurodevelopmental disorder 2023-09-01 no assertion criteria provided clinical testing

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