Submissions for variant NM_001271208.2(NEB):c.23881C>T (p.Pro7961Ser) (rs193224180)

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Total submissions: 5

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics	RCV000174649	SCV000225982	likely benign	not specified	2015-03-23	criteria provided, single submitter	clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine	RCV000174649	SCV000272197	uncertain significance	not specified	2015-11-03	criteria provided, single submitter	clinical testing	Variant classified as Uncertain Significance - Favor Benign. The p.Pro7961Ser va riant in NEB has not been previously reported in individuals with myopathy, but has been identified in 0.15% (97/66646) of European chromosomes by the Exome Agg regation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs193224180). C omputational prediction tools and conservation analysis do not provide strong su pport for or against an impact to the protein. In summary, while the clinical si gnificance of the p.Pro7961Ser variant is uncertain, these data suggest that it is more likely to be benign.
Invitae	RCV001080323	SCV000640729	likely benign	Nemaline myopathy 2	2019-12-31	criteria provided, single submitter	clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000556596	SCV001152432	uncertain significance	not provided	2016-05-01	criteria provided, single submitter	clinical testing
Illumina Clinical Services Laboratory,Illumina	RCV001080323	SCV001291480	uncertain significance	Nemaline myopathy 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). 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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