ClinVar Miner

Submissions for variant NM_001352702.2(PTK2):c.2896G>T (p.Asp966Tyr)

dbSNP: rs2551334970
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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 RCV004442888 SCV004934807 uncertain significance not specified 2024-02-21 criteria provided, single submitter clinical testing The c.2830G>T (p.D944Y) alteration is located in exon 30 (coding exon 29) of the PTK2 gene. This alteration results from a G to T substitution at nucleotide position 2830, causing the aspartic acid (D) at amino acid position 944 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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