ClinVar Miner

Submissions for variant NM_007030.3(TPPP):c.320C>G (p.Ser107Cys)

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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 RCV005290104 SCV005953542 uncertain significance not specified 2025-03-10 criteria provided, single submitter clinical testing The c.320C>G (p.S107C) alteration is located in exon 3 (coding exon 2) of the TPPP gene. This alteration results from a C to G substitution at nucleotide position 320, causing the serine (S) at amino acid position 107 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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