ClinVar Miner

Submissions for variant NM_006277.3(ITSN2):c.2939A>G (p.Tyr980Cys)

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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 RCV003417155 SCV004113323 uncertain significance ITSN2-related disorder 2022-12-19 criteria provided, single submitter clinical testing The ITSN2 c.2939A>G variant is predicted to result in the amino acid substitution p.Tyr980Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.66% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/2-24477250-T-C). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Labcorp Genetics (formerly Invitae), Labcorp RCV003732568 SCV004537280 benign not provided 2023-10-03 criteria provided, single submitter clinical testing

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