ClinVar Miner

Submissions for variant NM_207346.3(TSEN54):c.766G>A (p.Gly256Ser)

gnomAD frequency: 0.00049  dbSNP: rs200015685
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001538945 SCV001756664 uncertain significance not provided 2022-12-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV001538945 SCV002192694 likely benign not provided 2024-10-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV002568245 SCV003685943 uncertain significance Inborn genetic diseases 2021-05-01 criteria provided, single submitter clinical testing The c.766G>A (p.G256S) alteration is located in exon 8 (coding exon 8) of the TSEN54 gene. This alteration results from a G to A substitution at nucleotide position 766, causing the glycine (G) at amino acid position 256 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005395066 SCV006053292 uncertain significance Pontocerebellar hypoplasia type 4; Pontocerebellar hypoplasia type 2A; Pontocerebellar hypoplasia type 5 2022-05-30 criteria provided, single submitter research

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