ClinVar Miner

Submissions for variant NM_031246.4(PSG2):c.216C>G (p.Ile72Met)

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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 RCV005261406 SCV005928241 uncertain significance not specified 2025-02-26 criteria provided, single submitter clinical testing The c.216C>G (p.I72M) alteration is located in exon 2 (coding exon 2) of the PSG2 gene. This alteration results from a C to G substitution at nucleotide position 216, causing the isoleucine (I) at amino acid position 72 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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