ClinVar Miner

Submissions for variant NM_145728.3(SYNM):c.1034C>T (p.Thr345Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003976977 SCV004795528 likely benign SYNM-related disorder 2019-03-07 criteria provided, single submitter 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).
Ambry Genetics RCV004867932 SCV005513132 uncertain significance not specified 2024-08-26 criteria provided, single submitter clinical testing The c.1034C>T (p.T345I) alteration is located in exon 4 (coding exon 4) of the SYNM gene. This alteration results from a C to T substitution at nucleotide position 1034, causing the threonine (T) at amino acid position 345 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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