ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1102G>A (p.Ala368Thr) (rs376958800)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195640 SCV000251945 uncertain significance not provided 2018-11-29 criteria provided, single submitter clinical testing p.Ala368Thr (GCC>ACC): c.1102 G>A in exon 8 of the NDUFV1 gene (NM_007103.3). A variant of unknown significance has been identified in the NDUFV1 gene. The A368T missense substitution has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. The amino acid change is non-conservative in that a non-polar, smaller Alanine residue is replaced by a polar, larger Threonine residue. This change occurs at a highly conserved position in the NDUFV1 protein; however, multiple in-silico analysis programs predict that A368T is a benign sequence change. Therefore, based on the currently available information, it is unclear whether A368T is a disease-causing mutation or a rare benign variant. The variant is found in MITONUC-MITOP panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000327027 SCV000373640 uncertain significance Leigh syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000388550 SCV000373641 uncertain significance Mitochondrial complex I deficiency 2016-06-14 criteria provided, single submitter clinical testing

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