ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.744C>T (p.Asp248=) (rs188689330)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000251117 SCV000304436 likely benign not specified criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000251117 SCV000916442 likely benign not specified 2019-08-20 criteria provided, single submitter clinical testing
Invitae RCV000913489 SCV001058637 likely benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000251117 SCV001476898 benign not specified 2020-05-11 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000913489 SCV001550423 likely benign not provided no assertion criteria provided clinical testing The ALPL p.Asp171Asp variant was not identified in the literature nor was it identified in the COGR, Cosmic, MutDB or LOVD 3.0 databases. The variant was identified in dbSNP (ID: rs188689330) and ClinVar (classified as likely benign by Prevention Genetics). The variant was identified in control databases in 78 of 282744 chromosomes at a frequency of 0.000276 (Genome Aggregation Database Feb 27, 2017). The variant was observed in the following populations: Other in 7 of 7222 chromosomes (freq: 0.000969), Latino in 29 of 35432 chromosomes (freq: 0.000819), African in 11 of 24944 chromosomes (freq: 0.000441) and European (non-Finnish) in 31 of 129096 chromosomes (freq: 0.00024), but was not observed in the Ashkenazi Jewish, East Asian, European (Finnish), and South Asian populations. The p.Asp171Asp variant is not expected to have clinical significance because it does not result in a change of amino acid and is not located in a known consensus splice site. The variant occurs outside of the splicing consensus sequence and in silico or computational prediction software programs (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer) do not predict a difference in splicing. In summary, based on the above information the clinical significance of this variant cannot be determined with certainty at this time although we would lean towards a more benign role for this variant. This variant is classified as likely benign.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.