ClinVar Miner

Submissions for variant NM_000081.4(LYST):c.6881+8T>C

gnomAD frequency: 0.00008  dbSNP: rs372075872
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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 RCV001405483 SCV001607406 likely benign Chédiak-Higashi syndrome 2020-10-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004702499 SCV005205490 uncertain significance not specified 2024-06-25 criteria provided, single submitter clinical testing Variant summary: LYST c.6881+8T>C alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. Consensus agreement among computation tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 5.6e-05 in 250614 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in LYST causing Chediak-Higashi Syndrome (5.6e-05 vs 0.0011), allowing no conclusion about variant significance. To our knowledge, no occurrence of c.6881+8T>C in individuals affected with Chediak-Higashi Syndrome and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 707296). Based on the evidence outlined above, the variant was classified as uncertain significance.

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