ClinVar Miner

Submissions for variant NM_001256317.3(TMPRSS3):c.957G>C (p.Met319Ile)

gnomAD frequency: 0.00229  dbSNP: rs115223836
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000155296 SCV000204982 benign not specified 2012-04-30 criteria provided, single submitter clinical testing Met319Ile in Exon 10 of TMPRSS3: This variant is not expected to have clinical s ignificance because it has been identified in 0.6% (23/3738) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http ://evs.gs.washington.edu/EVS; dbSNP rs115223836).
GeneDx RCV000907877 SCV000718117 likely benign not provided 2021-04-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000907877 SCV001052606 benign not provided 2024-12-23 criteria provided, single submitter clinical testing
Ambry Genetics RCV003162632 SCV003886520 uncertain significance Inborn genetic diseases 2023-02-09 criteria provided, single submitter clinical testing The c.957G>C (p.M319I) alteration is located in exon 10 (coding exon 9) of the TMPRSS3 gene. This alteration results from a G to C substitution at nucleotide position 957, causing the methionine (M) at amino acid position 319 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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