Submissions for variant NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr)

gnomAD frequency: 0.00078  dbSNP: rs143218310

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507444	SCV000605165	likely benign	not specified	2016-09-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727150	SCV000706164	uncertain significance	not provided	2017-02-23	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV001078524	SCV001111571	likely benign	Schneckenbecken dysplasia	2025-01-06	criteria provided, single submitter	clinical testing
Genome Diagnostics Laboratory, The Hospital for Sick Children	RCV002279293	SCV002567013	likely benign	Connective tissue disorder	2022-05-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002524926	SCV003609162	uncertain significance	Inborn genetic diseases	2021-06-18	criteria provided, single submitter	clinical testing	The c.814G>A (p.A272T) alteration is located in exon 10 (coding exon 10) of the SLC35D1 gene. This alteration results from a G to A substitution at nucleotide position 814, causing the alanine (A) at amino acid position 272 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx	RCV000727150	SCV003840652	uncertain significance	not provided	2023-03-08	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