Submissions for variant NM_001360.3(DHCR7):c.485C>T (p.Ala162Val)

gnomAD frequency: 0.00011  dbSNP: rs398123606

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000079656	SCV000111539	uncertain significance	not provided	2017-08-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313766	SCV000848615	uncertain significance	Inborn genetic diseases	2021-09-30	criteria provided, single submitter	clinical testing	The c.485C>T (p.A162V) alteration is located in exon 6 (coding exon 4) of the DHCR7 gene. This alteration results from a C to T substitution at nucleotide position 485, causing the alanine (A) at amino acid position 162 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV000079656	SCV001784419	uncertain significance	not provided	2024-08-04	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp	RCV001274683	SCV002118692	likely benign	Smith-Lemli-Opitz syndrome	2024-11-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001274683	SCV002784069	uncertain significance	Smith-Lemli-Opitz syndrome	2021-08-23	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001274683	SCV001459047	uncertain significance	Smith-Lemli-Opitz syndrome	2018-06-29	no assertion criteria provided	clinical testing