ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.78+1G>A (rs778593702)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667209 SCV000791627 pathogenic Nemaline myopathy 2 2017-05-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000667209 SCV000893564 pathogenic Nemaline myopathy 2 2018-10-31 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781651 SCV000919863 pathogenic Nemaline myopathy 2017-12-11 criteria provided, single submitter clinical testing Variant summary: The NEB c.78+1G>A variant involves the alteration of a conserved intronic nucleotide and 5/5 splice prediction tools predict a significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/245790 control chromosomes (gnomAD) at a frequency of 0.0000081, which does not exceed the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355). Multiple publications have cited the variant in affected compound heterozygote and homozygote patients presenting with various severities of NEM2. The variant of interest has not, to our knowledge, been cited by clinical diagnostic laboratories, although HGMD cites the variant as "disease-causing." Taken together, this variant is classified as pathogenic.

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