ClinVar Miner

Submissions for variant NM_001378454.1(ALMS1):c.4267A>T (p.Thr1423Ser)

gnomAD frequency: 0.00003  dbSNP: rs746145270
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665220 SCV000789298 uncertain significance Alstrom syndrome 2017-01-30 criteria provided, single submitter clinical testing
Invitae RCV000665220 SCV001411901 uncertain significance Alstrom syndrome 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 1424 of the ALMS1 protein (p.Thr1424Ser). This variant is present in population databases (rs746145270, gnomAD 0.06%). 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: 550466). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Not Available"; Align-GVGD: "Not Available". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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.
Fulgent Genetics, Fulgent Genetics RCV000665220 SCV002785516 uncertain significance Alstrom syndrome 2022-01-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV002530649 SCV003586316 uncertain significance Inborn genetic diseases 2021-12-21 criteria provided, single submitter clinical testing The c.4270A>T (p.T1424S) alteration is located in exon 8 (coding exon 8) of the ALMS1 gene. This alteration results from a A to T substitution at nucleotide position 4270, causing the threonine (T) at amino acid position 1424 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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