ClinVar Miner

Submissions for variant NM_014874.4(MFN2):c.271G>A (p.Val91Met)

dbSNP: rs1557519001
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001096147 SCV001252337 uncertain significance Hereditary motor and sensory neuropathy with optic atrophy 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.
Illumina Laboratory Services, Illumina RCV001097890 SCV001254216 uncertain significance Charcot-Marie-Tooth disease type 2 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). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Fulgent Genetics, Fulgent Genetics RCV002480463 SCV002784344 uncertain significance Charcot-Marie-Tooth disease type 2A2; Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b;; Neuropathy, hereditary motor and sensory, type 6A 2022-05-11 criteria provided, single submitter clinical testing

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