ClinVar Miner

Submissions for variant NM_007103.4(NDUFV1):c.1162+4A>C (rs199683937)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414504 SCV000491133 likely pathogenic not provided 2016-08-25 criteria provided, single submitter clinical testing The c.1162+4A>C variant in the NDUFV1 gene has been reported previously opposite of a frameshift variant in the second NDUFV1 allele, in a patient with infantile onset intractable seizures, lactic acidemia, cerebellar ataxia, psychomotor regression, strabismus, ptosis and complex 1 deficiency confirmed in muscle and liver (Benit et al., 2001). This variant reduces the quality of the splice donor site in intron 8, and is expected to cause abnormal gene splicing. The c.1162+4A>C variant was not observed at any significant frequency in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Therefore, we interpret c.1162+4A>C as a likely pathogenic variant.
Fulgent Genetics,Fulgent Genetics RCV000763270 SCV000893914 pathogenic Mitochondrial complex I deficiency, nuclear type 1 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000015104 SCV000035361 pathogenic MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4 2001-06-01 no assertion criteria provided literature only

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