ClinVar Miner

Submissions for variant NM_018068.5(PIWIL2):c.274A>G (p.Met92Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV004809120 SCV005432117 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing PIWIL2: BP4
Ambry Genetics RCV004848019 SCV005468699 uncertain significance not specified 2024-10-20 criteria provided, single submitter clinical testing The c.274A>G (p.M92V) alteration is located in exon 3 (coding exon 2) of the PIWIL2 gene. This alteration results from a A to G substitution at nucleotide position 274, causing the methionine (M) at amino acid position 92 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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