ClinVar Miner

Submissions for variant NM_152792.4(ASPRV1):c.-158C>T

gnomAD frequency: 0.00003  dbSNP: rs184561703
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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 RCV004019793 SCV004909800 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.95C>T (p.P32L) alteration is located in exon 1 (coding exon 1) of the ASPRV1 gene. This alteration results from a C to T substitution at nucleotide position 95, causing the proline (P) at amino acid position 32 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Science for Life laboratory, Karolinska Institutet RCV000149354 SCV000088996 unknown Malignant tumor of prostate no assertion criteria provided not provided Converted during submission to Uncertain significance.

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