Submissions for variant NM_000376.3(VDR):c.909C>T (p.Ala303=)

gnomAD frequency: 0.00195  dbSNP: rs12721365

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000365146	SCV000378922	uncertain significance	Vitamin D-dependent rickets type II with alopecia	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, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Genetic Services Laboratory, University of Chicago	RCV000503994	SCV000597844	likely benign	not specified	2016-11-07	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000904798	SCV001049342	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000904798	SCV001816316	likely benign	not provided	2021-05-18	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000904798	SCV005330084	likely benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	VDR: BP4, BP7