ClinVar Miner

Submissions for variant NM_017777.4(MKS1):c.1447A>C (p.Thr483Pro)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV003336589 SCV004046597 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2022-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV003358166 SCV004077286 uncertain significance Inborn genetic diseases 2023-06-22 criteria provided, single submitter clinical testing The c.1447A>C (p.T483P) alteration is located in exon 16 (coding exon 16) of the MKS1 gene. This alteration results from a A to C substitution at nucleotide position 1447, causing the threonine (T) at amino acid position 483 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV003336589 SCV005649610 uncertain significance Bardet-Biedl syndrome 13; Meckel syndrome, type 1; Joubert syndrome 28 2024-03-27 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004733616 SCV005365721 uncertain significance MKS1-related disorder 2024-01-17 no assertion criteria provided clinical testing The MKS1 c.1447A>C variant is predicted to result in the amino acid substitution p.Thr483Pro. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0065% 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.

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