ClinVar Miner

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

gnomAD frequency: 0.00078  dbSNP: rs143218310
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Total submissions: 6
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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
Invitae RCV001078524 SCV001111571 likely benign Schneckenbecken dysplasia 2024-01-19 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

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