ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.322C>T (p.Arg108Cys)

gnomAD frequency: 0.00003  dbSNP: rs201476674
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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 RCV001058713 SCV001223304 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV002275203 SCV002563423 likely benign not provided 2022-07-01 criteria provided, single submitter clinical testing MKS1: BP4
New York Genome Center RCV002468132 SCV002764592 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2021-04-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004528365 SCV004108033 uncertain significance MKS1-related disorder 2023-01-29 criteria provided, single submitter clinical testing The MKS1 c.322C>T variant is predicted to result in the amino acid substitution p.Arg108Cys. To our knowledge, this variant has not been reported in the literature, although a different amino acid change at the same position (p.Arg108His) was reported in a patient with Joubert Syndrome (Sun et al. 2018. PubMed ID: 30076350). This variant is reported in 0.059% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/17-56293544-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004031852 SCV004968795 uncertain significance Inborn genetic diseases 2023-12-19 criteria provided, single submitter clinical testing The c.322C>T (p.R108C) alteration is located in exon 4 (coding exon 4) of the MKS1 gene. This alteration results from a C to T substitution at nucleotide position 322, causing the arginine (R) at amino acid position 108 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001827371 SCV002088721 uncertain significance Meckel syndrome, type 1 2020-02-21 no assertion criteria provided clinical testing

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