ClinVar Miner

Submissions for variant NM_002495.4(NDUFS4):c.10G>C (p.Val4Leu)

gnomAD frequency: 0.00048  dbSNP: rs185711494
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000335188 SCV000332377 benign not specified 2015-06-24 criteria provided, single submitter clinical testing
Invitae RCV000960853 SCV001107880 likely benign not provided 2024-01-30 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001154575 SCV001315951 likely benign Leigh syndrome 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina RCV001154576 SCV001315952 uncertain significance Mitochondrial complex I deficiency, nuclear type 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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