ClinVar Miner

Submissions for variant NM_001271208.2(NEB):c.10344C>T (p.Asn3448=) (rs145052299)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000251655 SCV000614161 likely benign not specified 2015-09-02 criteria provided, single submitter clinical testing
GeneDx RCV000251655 SCV000528498 benign not specified 2016-07-08 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Integrated Genetics/Laboratory Corporation of America RCV000588625 SCV000697797 benign not provided 2017-04-24 criteria provided, single submitter clinical testing Variant summary: The NEB c.10344C>T (p.Asn3448Asn) variant involves the alteration of a non-conserved nucleotide, resulting in a synonymous change. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 925/120696 control chromosomes (19 homozygotes) at a frequency of 0.0076639, which is approximately 2 times the estimated maximal expected allele frequency of a pathogenic NEB variant (0.0035355), suggesting this variant is likely a benign polymorphism. The variant is more common in East Asian sub-population with allele frequency of 5.4% (464/8592 chromosomes). In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as benign. The variant of interest has not, to our knowledge, been reported in affected individuals via publications nor evaluated for functional impact by in vivo/vitro studies. Taken together, this variant is classified as benign.
Invitae RCV000547646 SCV000640485 benign Nemaline myopathy 2 2017-12-26 criteria provided, single submitter clinical testing
PreventionGenetics RCV000251655 SCV000307184 benign not specified criteria provided, single submitter clinical testing

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