ClinVar Miner

Submissions for variant NM_000543.4(SMPD1):c.636T>C (p.Asp212=) (rs7951904)

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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 RCV000079197 SCV000111066 benign not specified 2016-01-12 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000321861 SCV000372927 likely benign Sphingomyelin/cholesterol lipidosis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589211 SCV000697414 benign not provided 2016-08-10 criteria provided, single submitter clinical testing Variant summary: The SMPD1 c.636T>C (p.Asp212Asp) variant causes a synonymous change involving a non-conserved nucleotide with 5/5 splice prediction tools predicting no significant impact on splicing and no alterations to ESE binding sites. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency of 14999/114470 (1/7, 1169 homozygotes), which significantly exceeds the estimated maximal expected allele frequency for a pathogenic SMPD1 variant 1/447, suggesting this variant is likely a benign polymorphism. A reputable clinical laboratory cites the variant as "benign." Therefore, the variant of interest has been classified as Benign.
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000589211 SCV000801060 benign not provided 2015-10-23 no assertion criteria provided clinical testing
PreventionGenetics RCV000079197 SCV000305094 benign not specified criteria provided, single submitter clinical testing

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