ClinVar Miner

Submissions for variant NM_005006.7(NDUFS1):c.737+1G>A

dbSNP: rs935776676
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000779295 SCV000915877 uncertain significance Mitochondrial complex 1 deficiency, nuclear type 5 2017-04-28 criteria provided, single submitter clinical testing The NDUFS1 c.737+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of splice donor variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for NDUFS1-related disorders. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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