ClinVar Miner

Submissions for variant NM_018419.3(SOX18):c.748G>A (p.Ala250Thr)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003364410 SCV004078855 uncertain significance Inborn genetic diseases 2023-07-05 criteria provided, single submitter clinical testing The c.748G>A (p.A250T) alteration is located in exon 2 (coding exon 2) of the SOX18 gene. This alteration results from a G to A substitution at nucleotide position 748, causing the alanine (A) at amino acid position 250 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV005036762 SCV005664018 uncertain significance Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome 2024-02-07 criteria provided, single submitter clinical testing

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