ClinVar Miner

Submissions for variant NM_032444.4(SLX4):c.4862T>G (p.Leu1621Trp)

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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 RCV002841297 SCV003623855 uncertain significance Inborn genetic diseases 2022-05-11 criteria provided, single submitter clinical testing The c.4862T>G (p.L1621W) alteration is located in exon 14 (coding exon 13) of the SLX4 gene. This alteration results from a T to G substitution at nucleotide position 4862, causing the leucine (L) at amino acid position 1621 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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