ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.811C>A (p.His271Asn)

dbSNP: rs201771125
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia RCV000203095 SCV000258117 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000725357 SCV000336285 uncertain significance not provided 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV001215638 SCV001387392 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces histidine, which is basic and polar, with asparagine, which is neutral and polar, at codon 271 of the MKS1 protein (p.His271Asn). This variant is present in population databases (rs201771125, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with MKS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 218743). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MKS1 protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
New York Genome Center RCV003227714 SCV003925425 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2022-02-09 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004530213 SCV004718338 uncertain significance MKS1-related disorder 2024-01-18 criteria provided, single submitter clinical testing The MKS1 c.811C>A variant is predicted to result in the amino acid substitution p.His271Asn. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.029% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004020498 SCV004974248 uncertain significance Inborn genetic diseases 2023-09-20 criteria provided, single submitter clinical testing The c.811C>A (p.H271N) alteration is located in exon 8 (coding exon 8) of the MKS1 gene. This alteration results from a C to A substitution at nucleotide position 811, causing the histidine (H) at amino acid position 271 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Natera, Inc. RCV001828042 SCV002087648 uncertain significance Meckel syndrome, type 1 2020-02-12 no assertion criteria provided clinical testing

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