ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.6706C>A (p.Pro2236Thr)

gnomAD frequency: 0.00005  dbSNP: rs200724860
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000664517 SCV000788492 uncertain significance Alstrom syndrome 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV000664517 SCV002132858 uncertain significance Alstrom syndrome 2022-08-30 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 2237 of the ALMS1 protein (p.Pro2237Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has not been reported in the literature in individuals affected with ALMS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 549935). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.
Ambry Genetics RCV002360689 SCV002666224 uncertain significance Cardiovascular phenotype 2023-01-18 criteria provided, single submitter clinical testing The p.P2237T variant (also known as c.6709C>A), located in coding exon 8 of the ALMS1 gene, results from a C to A substitution at nucleotide position 6709. The proline at codon 2237 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Fulgent Genetics, Fulgent Genetics RCV000664517 SCV002790538 uncertain significance Alstrom syndrome 2022-03-05 criteria provided, single submitter clinical testing

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