ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6225A>T (p.Pro2075=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003635596 SCV004471506 likely benign Chédiak-Higashi syndrome 2024-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004723432 SCV005335493 uncertain significance LYST-related disorder 2024-05-29 no assertion criteria provided clinical testing The LYST c.6225A>T variant is not predicted to result in an amino acid change (p.=). This variant is predicted to alter splicing based on available splicing prediction programs (SpliceAI, Jaganathan et al. 2019. PubMed ID: 30661751). However, such computer prediction programs are imperfect. To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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