ClinVar Miner

Submissions for variant NM_182641.4(BPTF):c.298G>T (p.Gly100Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV005300967 SCV005969238 uncertain significance Inborn genetic diseases 2025-03-07 criteria provided, single submitter clinical testing The c.298G>T (p.G100C) alteration is located in exon 1 (coding exon 1) of the BPTF gene. This alteration results from a G to T substitution at nucleotide position 298, causing the glycine (G) at amino acid position 100 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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