ClinVar Miner

Submissions for variant NM_018133.4(MSL2):c.1047_1050del (p.Ser349fs)

dbSNP: rs2529545947
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV004723271 SCV005333698 uncertain significance not provided 2022-03-26 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation as the last 229 amino acids are replaced with 22 different amino acids, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge; Variants in candidate genes are classified as variants of uncertain significance in accordance with ACMG guidelines (Richards et al., 2015)
Yong-hui Jiang Laboratory, Yale University RCV003331564 SCV004037580 pathogenic Syndromic neurodevelopmental disorder 2023-09-01 no assertion criteria provided clinical testing

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