ClinVar Miner

Submissions for variant NM_017872.5(THG1L):c.287A>T (p.Asp96Val)

gnomAD frequency: 0.00070  dbSNP: rs139588885
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002573254 SCV003624847 uncertain significance Inborn genetic diseases 2022-11-10 criteria provided, single submitter clinical testing The c.287A>T (p.D96V) alteration is located in exon 2 (coding exon 2) of the THG1L gene. This alteration results from a A to T substitution at nucleotide position 287, causing the aspartic acid (D) at amino acid position 96 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Mayo Clinic Laboratories, Mayo Clinic RCV001579772 SCV004227155 uncertain significance not provided 2023-02-24 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001579772 SCV001808464 uncertain significance not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001579772 SCV001974521 uncertain significance not provided no assertion criteria provided clinical testing

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