ClinVar Miner

Submissions for variant NM_000478.6(ALPL):c.1002C>T (p.Gly334=)

gnomAD frequency: 0.00026  dbSNP: rs370122334
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000726419 SCV000344507 uncertain significance not provided 2016-08-12 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000388202 SCV000354308 likely benign Hypophosphatasia 2018-01-12 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
GeneDx RCV000726419 SCV000577261 uncertain significance not provided 2021-08-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.
Labcorp Genetics (formerly Invitae), Labcorp RCV000726419 SCV001048551 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003488505 SCV004241451 benign not specified 2023-12-14 criteria provided, single submitter clinical testing
Natera, Inc. RCV000388202 SCV001463899 uncertain significance Hypophosphatasia 2020-01-24 no assertion criteria provided clinical testing

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