ClinVar Miner

Submissions for variant NM_001386795.1(DTNA):c.953C>A (p.Pro318His)

gnomAD frequency: 0.00001  dbSNP: rs727505085
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000156525 SCV000206244 uncertain significance not specified 2014-04-16 criteria provided, single submitter clinical testing The Pro318His variant in DTNA has not been previously reported in individuals wi th cardiomyopathy or in large population studies. Computational prediction tool s and conservation analysis suggest that the Pro318His variant may impact the pr otein, though this information is not predictive enough to determine pathogenici ty. In summary, the clinical significance of the Pro318His variant is uncertain.
New York Genome Center RCV003335138 SCV004046526 uncertain significance Left ventricular noncompaction 1 2023-02-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000156525 SCV005119381 uncertain significance not specified 2024-05-28 criteria provided, single submitter clinical testing The c.953C>A (p.P318H) alteration is located in exon 9 (coding exon 8) of the DTNA gene. This alteration results from a C to A substitution at nucleotide position 953, causing the proline (P) at amino acid position 318 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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