ClinVar Miner

Submissions for variant NM_001163278.2(TENM1):c.1187C>T (p.Ala396Val)

gnomAD frequency: 0.00008  dbSNP: rs146613496
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004867733 SCV005512559 uncertain significance not specified 2024-07-05 criteria provided, single submitter clinical testing The c.1187C>T (p.A396V) alteration is located in exon 7 (coding exon 7) of the TENM1 gene. This alteration results from a C to T substitution at nucleotide position 1187, causing the alanine (A) at amino acid position 396 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV001573274 SCV001798879 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001573274 SCV001966938 likely benign not provided no assertion criteria provided clinical testing

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