ClinVar Miner

Submissions for variant NM_014026.6(DCPS):c.550G>A (p.Ala184Thr)

gnomAD frequency: 0.00029  dbSNP: rs147353126
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001332999 SCV001525476 uncertain significance Al-Raqad syndrome 2019-05-08 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002546607 SCV003730006 uncertain significance Inborn genetic diseases 2021-07-22 criteria provided, single submitter clinical testing The c.550G>A (p.A184T) alteration is located in exon 4 (coding exon 4) of the DCPS gene. This alteration results from a G to A substitution at nucleotide position 550, causing the alanine (A) at amino acid position 184 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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