ClinVar Miner

Submissions for variant NM_001352702.2(PTK2):c.1624C>G (p.Leu542Val)

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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 RCV004853785 SCV005478257 uncertain significance not specified 2024-09-30 criteria provided, single submitter clinical testing The c.1567C>G (p.L523V) alteration is located in exon 18 (coding exon 17) of the PTK2 gene. This alteration results from a C to G substitution at nucleotide position 1567, causing the leucine (L) at amino acid position 523 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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