ClinVar Miner

Submissions for variant NM_001318525.2(TRAPPC2L):c.97C>T (p.His33Tyr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics, Fulgent Genetics RCV005017878 SCV005641520 uncertain significance Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 2024-03-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV005291133 SCV005964092 uncertain significance not specified 2025-02-13 criteria provided, single submitter clinical testing The c.97C>T (p.H33Y) alteration is located in exon 2 (coding exon 2) of the TRAPPC2L gene. This alteration results from a C to T substitution at nucleotide position 97, causing the histidine (H) at amino acid position 33 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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