ClinVar Miner

Submissions for variant NM_015937.6(PIGT):c.1730dup (p.Leu578fs)

dbSNP: rs760395465
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001330694 SCV001522449 uncertain significance Multiple congenital anomalies-hypotonia-seizures syndrome 3 2019-02-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
GeneDx RCV001843583 SCV002102763 pathogenic not provided 2025-01-02 criteria provided, single submitter clinical testing Frameshift variant predicted to result in abnormal protein length as the last 1 amino acid is replaced with 34 different amino acids, and other similar variants have been reported; Published functional studies indicate a damaging effect; however, the reported enzyme activity was within the normal range (PMID: 28327575); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 30976099, 31430258, 32725661, 33144682, 28327575, 37872713)

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