ClinVar Miner

Submissions for variant NM_020680.4(SCYL1):c.1933G>A (p.Asp645Asn)

gnomAD frequency: 0.00163  dbSNP: rs200518123
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000963281 SCV001110429 likely benign not provided 2024-01-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547282 SCV003754762 benign Inborn genetic diseases 2021-09-28 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.
CeGaT Center for Human Genetics Tuebingen RCV000963281 SCV004701443 likely benign not provided 2024-01-01 criteria provided, single submitter clinical testing SCYL1: BS2
Breakthrough Genomics, Breakthrough Genomics RCV000963281 SCV005211323 likely benign not provided criteria provided, single submitter not provided
PreventionGenetics, part of Exact Sciences RCV003905859 SCV004726890 benign SCYL1-related disorder 2020-03-06 no assertion criteria provided clinical testing This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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