ClinVar Miner

Submissions for variant NM_001370100.5(ZMYND11):c.1306G>A (p.Val436Met)

gnomAD frequency: 0.00005  dbSNP: rs374548684
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499823 SCV000598042 likely benign not specified 2017-06-06 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002524343 SCV003454416 likely benign not provided 2024-04-15 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000499823 SCV005394933 uncertain significance not specified 2024-09-11 criteria provided, single submitter clinical testing Variant summary: ZMYND11 c.1306G>A (p.Val436Met) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 1.6e-05 in 251324 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1306G>A in individuals affected with Intellectual Disability, Autosomal Dominant 30 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 437340). Based on the evidence outlined above, the variant was classified as uncertain significance.

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