ClinVar Miner

Submissions for variant NM_017755.6(NSUN2):c.510G>A (p.Leu170=)

gnomAD frequency: 0.00460  dbSNP: rs144888290
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000287298 SCV000458094 benign Intellectual disability, autosomal recessive 5 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Ambry Genetics RCV002311425 SCV000846898 benign Inborn genetic diseases 2016-05-25 criteria provided, single submitter clinical testing This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp RCV000959589 SCV001106507 benign not provided 2025-02-02 criteria provided, single submitter clinical testing
GeneDx RCV000959589 SCV001895071 benign not provided 2018-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000287298 SCV002799837 likely benign Intellectual disability, autosomal recessive 5 2021-08-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000959589 SCV005298578 benign not provided criteria provided, single submitter not provided

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