ClinVar Miner

Submissions for variant NM_006277.3(ITSN2):c.2660C>A (p.Ser887Tyr)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003041387 SCV003443779 likely benign not provided 2024-10-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV004070160 SCV003568814 uncertain significance not specified 2021-07-13 criteria provided, single submitter clinical testing The c.2660C>A (p.S887Y) alteration is located in exon 22 (coding exon 21) of the ITSN2 gene. This alteration results from a C to A substitution at nucleotide position 2660, causing the serine (S) at amino acid position 887 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
PreventionGenetics, part of Exact Sciences RCV003926656 SCV004745506 likely benign ITSN2-related disorder 2020-06-23 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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