ClinVar Miner

Submissions for variant NM_138780.3(SYTL5):c.220A>T (p.Ile74Phe)

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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 RCV004102871 SCV003574434 uncertain significance not specified 2021-07-20 criteria provided, single submitter clinical testing The c.220A>T (p.I74F) alteration is located in exon 3 (coding exon 2) of the SYTL5 gene. This alteration results from a A to T substitution at nucleotide position 220, causing the isoleucine (I) at amino acid position 74 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003906582 SCV004721563 likely benign SYTL5-related disorder 2021-07-09 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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