ClinVar Miner

Submissions for variant NM_020195.3(SDR39U1):c.166G>T (p.Val56Phe)

gnomAD frequency: 0.00001  dbSNP: rs745601563
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004447415 SCV004943599 uncertain significance not specified 2023-12-28 criteria provided, single submitter clinical testing The c.166G>T (p.V56F) alteration is located in exon 3 (coding exon 3) of the SDR39U1 gene. This alteration results from a G to T substitution at nucleotide position 166, causing the valine (V) at amino acid position 56 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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