ClinVar Miner

Submissions for variant NM_173500.4(TTBK2):c.2299G>A (p.Val767Met)

gnomAD frequency: 0.00005  dbSNP: rs752400040
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000713769 SCV000844399 likely benign not provided 2017-12-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000713769 SCV002944419 likely benign not provided 2023-12-06 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004800556 SCV005423200 uncertain significance not specified 2024-10-16 criteria provided, single submitter clinical testing Variant summary: TTBK2 c.2299G>A (p.Val767Met) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4.8e-05 in 249544 control chromosomes. This frequency is not significantly higher than estimated for a pathogenic variant in TTBK2 causing Spinocerebellar Ataxia Type 11, allowing no conclusion about variant significance. To our knowledge, no occurrence of c.2299G>A in individuals affected with Spinocerebellar Ataxia Type 11 and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 586780). Based on the evidence outlined above, the variant was classified as uncertain significance.

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