ClinVar Miner

Submissions for variant NM_001308210.2(TSHZ1):c.2012C>G (p.Ser671Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004074700 SCV003527364 uncertain significance not specified 2021-08-17 criteria provided, single submitter clinical testing The c.1877C>G (p.S626C) alteration is located in exon 2 (coding exon 1) of the TSHZ1 gene. This alteration results from a C to G substitution at nucleotide position 1877, causing the serine (S) at amino acid position 626 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003963722 SCV004779267 likely benign TSHZ1-related disorder 2022-09-15 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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