ClinVar Miner

Submissions for variant NM_001939.3(DRP2):c.283G>A (p.Ala95Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003080133 SCV003480915 likely benign not provided 2022-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV004073166 SCV004858854 uncertain significance not specified 2022-08-26 criteria provided, single submitter clinical testing The c.283G>A (p.A95T) alteration is located in exon 5 (coding exon 3) of the DRP2 gene. This alteration results from a G to A substitution at nucleotide position 283, causing the alanine (A) at amino acid position 95 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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