ClinVar Miner

Submissions for variant NM_153704.6(TMEM67):c.511G>A (p.Val171Ile)

gnomAD frequency: 0.00016  dbSNP: rs200329273
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000527602 SCV000634632 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2025-01-21 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000999054 SCV001155453 uncertain significance not provided 2017-05-01 criteria provided, single submitter clinical testing
New York Genome Center RCV001420616 SCV001622939 uncertain significance Joubert syndrome 6 2020-06-26 criteria provided, single submitter clinical testing
GeneDx RCV000999054 SCV003915062 uncertain significance not provided 2023-03-24 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV005044803 SCV005675603 uncertain significance COACH syndrome 1; Joubert syndrome 6; Meckel syndrome, type 3; RHYNS syndrome; Bardet-Biedl syndrome 14; Nephronophthisis 11 2024-01-05 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004732934 SCV005348528 uncertain significance TMEM67-related disorder 2024-09-06 no assertion criteria provided clinical testing The TMEM67 c.511G>A variant is predicted to result in the amino acid substitution p.Val171Ile. To our knowledge, this variant has not been reported in the literature in association with disease. It was reported in a control individual from a large study of focal segmental glomerulosclerosis (Table S4, Wang. 2019. PubMed ID: 31308072). This variant is reported in 0.14% of alleles in individuals of Ashkenazi Jewish descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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