ClinVar Miner

Submissions for variant NM_001128228.3(TPRN):c.1712C>G (p.Ser571Cys)

dbSNP: rs140967677
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203034 SCV000257793 uncertain significance not specified 2015-06-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000879756 SCV001022808 likely benign not provided 2024-12-02 criteria provided, single submitter clinical testing
GeneDx RCV000879756 SCV001817036 likely benign not provided 2021-04-28 criteria provided, single submitter clinical testing
Ambry Genetics RCV002517344 SCV003717193 uncertain significance Inborn genetic diseases 2022-07-20 criteria provided, single submitter clinical testing The c.1712C>G (p.S571C) alteration is located in exon 1 (coding exon 1) of the TPRN gene. This alteration results from a C to G substitution at nucleotide position 1712, causing the serine (S) at amino acid position 571 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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